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dc.contributor.author
Gil Rodríguez, María Concepción
dc.contributor.author
Deardorff, Matthew A.
dc.contributor.author
Ansari, Morad
dc.contributor.author
Tan, Christopher A.
dc.contributor.author
Parenti, Ilaria
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Baquero Montoya, Carolina
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Ousager, Liliana B.
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Puisac, Beatriz
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Hernández Marcos, María
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Teresa Rodrigo, María Esperanza
dc.contributor.author
Marcos Alcalde, Iñigo
dc.contributor.author
Wesselink, Jan-Jaap
dc.contributor.author
Lusa Bernal, Silvia
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Bijlsma, Emilia K.
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Braunholz, Diana
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Bueno Martínez, Inés
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Clark, Dina
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Cooper, Nicola S.
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Curry, Cynthia J.
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Fisher, Richard
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Fryer, Alan
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Ganesh, Jaya
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Gervasini, Cristina
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Gillessen Kaesbach, Gabrielle
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Guo, Yiran
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Hakonarson, Hakon
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Hopkin, Robert J.
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Kaur, Maninder
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Keating, Brendan J.
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Kibaek, María
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Kinning, Esther
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Kleefstra, Tjitske
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Kline, Antonie D.
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Kuchinskaya, Ekaterina
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Larizza, Lidia
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Li, Yun R.
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Liu, Xuanzhu
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Mariani, Milena
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Picker, Jonathan D.
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Pié, Ángeles
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Pozojevic, Jelena
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Queralt, Ethel
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Richer, Julie
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Roeder, Elizabeth
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Sinha, Anubha
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Scott, Richard H.
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So, Joyce
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Wusik, Katherine A.
dc.contributor.author
Wilson, Louise
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Zhang, Jianguo
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Gómez Puertas, Paulino
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Casale, Cesar Horacio
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Ström, Lena
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Selicorni, Angelo
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Ramos, Feliciano J.
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Jackson. Laird G.
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Krantz, Ian D.
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Das, Soma
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Hennekam, Raoul C.M.
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Kaiser, Frank J.
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FitzPatrick, David R.
dc.contributor.author
Pié, Juan
dc.date.available
2018-05-29T19:54:48Z
dc.date.issued
2015-03-02
dc.identifier.citation
Gil Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; et al.; De novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia De Lange Syndrome-Overlapping Phenotypes; Wiley-liss, Div John Wiley & Sons Inc; Human Mutation; 36; 4; 30-2-2015; 454-462
dc.identifier.issn
1059-7794
dc.identifier.uri
http://hdl.handle.net/11336/46500
dc.description.abstract
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of sixteen patients with CdLS-like features caused by mutations in SMC3. Modelling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared to typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ¡1-2% of CdLS-like phenotypes.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, Div John Wiley & Sons Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Cornelia
dc.subject
Lange
dc.subject
Nipbl
dc.subject
Smc1a
dc.subject.classification
Salud Ocupacional
dc.subject.classification
Ciencias de la Salud
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
De novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia De Lange Syndrome-Overlapping Phenotypes
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-05-09T14:08:46Z
dc.identifier.eissn
1098-1004
dc.journal.volume
36
dc.journal.number
4
dc.journal.pagination
454-462
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Hoboken
dc.description.fil
Fil: Gil Rodríguez, María Concepción. Universidad de Zaragoza; España
dc.description.fil
Fil: Deardorff, Matthew A.. Children´s Hospital of Philadelphia; Estados Unidos. University of Pennsylvania ; Estados Unidos
dc.description.fil
Fil: Ansari, Morad. University of Edinburgh; Reino Unido
dc.description.fil
Fil: Tan, Christopher A.. University of Chicago; Estados Unidos
dc.description.fil
Fil: Parenti, Ilaria. Universität zu Lübeck; Alemania. Università degli Studi di Milano; Italia
dc.description.fil
Fil: Baquero Montoya, Carolina. Universidad de Zaragoza; España. Hospital Pablo Tobón Uribe; Colombia
dc.description.fil
Fil: Ousager, Liliana B.. Odense University Hospital; Dinamarca
dc.description.fil
Fil: Puisac, Beatriz. Universidad de Zaragoza; España
dc.description.fil
Fil: Hernández Marcos, María. Universidad de Zaragoza; España
dc.description.fil
Fil: Teresa Rodrigo, María Esperanza. Universidad de Zaragoza; España
dc.description.fil
Fil: Marcos Alcalde, Iñigo. Centro de Biología Molecular ; España
dc.description.fil
Fil: Wesselink, Jan-Jaap. Biomol‐Informatics SL; España
dc.description.fil
Fil: Lusa Bernal, Silvia. Biomol‐Informatics SL; España
dc.description.fil
Fil: Bijlsma, Emilia K.. Leiden University; Países Bajos
dc.description.fil
Fil: Braunholz, Diana. Universität zu Lübeck; Alemania
dc.description.fil
Fil: Bueno Martínez, Inés. Universidad de Zaragoza; España. Hospital Clínico Universitario ; España
dc.description.fil
Fil: Clark, Dina. Children´s Hospital of Philadelphia; Estados Unidos
dc.description.fil
Fil: Cooper, Nicola S.. Birmingham Women´s Hospital; Reino Unido
dc.description.fil
Fil: Curry, Cynthia J.. University of California; Estados Unidos
dc.description.fil
Fil: Fisher, Richard. The James Cook University Hospital; Reino Unido
dc.description.fil
Fil: Fryer, Alan. Liverpool Women´s Hospital and Alder Hey Children´s Hospital; Reino Unido
dc.description.fil
Fil: Ganesh, Jaya. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
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Fil: Gervasini, Cristina. Università degli Studi di Milano; Italia
dc.description.fil
Fil: Gillessen Kaesbach, Gabrielle. Universität zu Lübeck; Alemania
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Fil: Guo, Yiran. Children´s Hospital of Philadelphia; Estados Unidos
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Fil: Hakonarson, Hakon. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
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Fil: Hopkin, Robert J.. Cincinnati Children´s Hospital Medical Center; Estados Unidos
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Fil: Kaur, Maninder. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
dc.description.fil
Fil: Keating, Brendan J.. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
dc.description.fil
Fil: Kibaek, María. HC Andersen Children´s Hospital; Dinamarca
dc.description.fil
Fil: Kinning, Esther. Southern General Hospital; Reino Unido
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Fil: Kleefstra, Tjitske. Radboud Universiteit Nijmegen; Países Bajos
dc.description.fil
Fil: Kline, Antonie D.. Greater Baltimore Medical Center; Estados Unidos
dc.description.fil
Fil: Kuchinskaya, Ekaterina. Linköping University Hospital; Suecia
dc.description.fil
Fil: Larizza, Lidia. Università degli Studi di Milano; Italia
dc.description.fil
Fil: Li, Yun R.. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
dc.description.fil
Fil: Liu, Xuanzhu. BGI-Shenzhen; China
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Fil: Mariani, Milena. Fobdazione MBBM AOS Gerardo; Italia
dc.description.fil
Fil: Picker, Jonathan D.. Boston Children´s Hospital; Estados Unidos
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Fil: Pié, Ángeles. Universidad de Zaragoza; España
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Fil: Pozojevic, Jelena. Universität zu Lübeck; Alemania
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Fil: Queralt, Ethel. L´Hospitalet de Llobregat; España
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Fil: Richer, Julie. University of Ottawa; Canadá
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Fil: Roeder, Elizabeth. University of Texas San Antonio; Estados Unidos
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Fil: Sinha, Anubha. Birmingham Women´s Hospital; Reino Unido
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Fil: Scott, Richard H.. Great Ormond Street Hospital; Reino Unido. UCL Intitute of Child Health; Reino Unido
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Fil: So, Joyce. CAMH; Canadá
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Fil: Wusik, Katherine A.. Cincinnati Children´s Hospital Medical Center; Estados Unidos
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Fil: Wilson, Louise. Great Ormond Street Hospital; Reino Unido
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Fil: Zhang, Jianguo. BGI-Shenzhen; China
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Fil: Gómez Puertas, Paulino. Centro de Biología Molecular ; España
dc.description.fil
Fil: Casale, Cesar Horacio. Universidad Nacional de Río Cuarto. Facultad de Ciencias Exactas Fisicoquímicas y Naturales. Departamento de Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Ström, Lena. Karolinska Institutet; Suecia
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Fil: Selicorni, Angelo. Fobdazione MBBM AOS Gerardo; Italia
dc.description.fil
Fil: Ramos, Feliciano J.. Universidad de Zaragoza; España. Hospital Clínico Universitario ; España
dc.description.fil
Fil: Jackson. Laird G.. Drexel University; Estados Unidos
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Fil: Krantz, Ian D.. University of Pennsylvania ; Estados Unidos. Children´s Hospital of Philadelphia; Estados Unidos
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Fil: Das, Soma. University of Chicago; Estados Unidos
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Fil: Hennekam, Raoul C.M.. University of Amsterdam; Países Bajos
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Fil: Kaiser, Frank J.. Universität zu Lübeck; Alemania
dc.description.fil
Fil: FitzPatrick, David R.. University of Edinburgh; Reino Unido
dc.description.fil
Fil: Pié, Juan. Universidad de Zaragoza; España
dc.journal.title
Human Mutation
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/humu.22761
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.22761
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