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dc.contributor.author
Mendez, Rodrigo
dc.contributor.author
Delea, Marisol
dc.contributor.author
Dain, Liliana Beatriz
dc.contributor.author
Rittler, Monica
dc.date.available
2020-11-11T19:13:39Z
dc.date.issued
2020-01
dc.identifier.citation
Mendez, Rodrigo; Delea, Marisol; Dain, Liliana Beatriz; Rittler, Monica; A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome; Lippincott Williams; Clinical Dysmorphology; 29; 1; 1-2020; 42-45
dc.identifier.issn
0962-8827
dc.identifier.uri
http://hdl.handle.net/11336/118181
dc.description.abstract
Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS; OMIM 603736), which overlaps with the originally described Ohdo syndrome (Verloes, 2006), is an autosomal dominant disorder, clinically recognizable at birth. Classical features are blepharophimosis with ptosis, epicanthus inversus, long thumbs/great toes, cryptorchidism, congenital heart defects, and variably cleft palate and thyroid dysfunction (Clayton-Smith, 2011; Campeau, 2012). SBBYSS has been shown to be due to heterozygous KAT6B mutations. KAT6B [OMIM 605880] is located on chromosome 10q22.2 and encodes a highly conserved histone acetyltransferase involved in chromatin modification (Clayton-Smith, 2011). Overlap with the Genito-patellar syndrome (GPS) is possibly due to different mutations of the KAT6B gene (Campeau, 2012). Most reported SBBYSS cases were sporadic, however, at least one family with affected individuals in three generations has been described (Kim, 2012).The purpose of this work was to report a so far novel KAT6B mutation in a further patient with the SBBYS syndrome.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Lippincott Williams
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Blepharophimosis -Ptosis-Epicanthus inversus
dc.subject
Long thumbs and halluces
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Cryptorchidism
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Congenital heart defect
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-11-11T12:39:30Z
dc.journal.volume
29
dc.journal.number
1
dc.journal.pagination
42-45
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Philadelphia
dc.description.fil
Fil: Mendez, Rodrigo. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
dc.description.fil
Fil: Delea, Marisol. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
dc.description.fil
Fil: Dain, Liliana Beatriz. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Rittler, Monica. Hospital Materno Infantil “Ramón Sardá”; Argentina
dc.journal.title
Clinical Dysmorphology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://journals.lww.com/clindysmorphol/Citation/2020/01000/A_novel_pathogenic_frameshift_variant_of_KAT6B.8.aspx
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1097/MCD.0000000000000270
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