Artículo
Homozygous N540K hypochondroplasia-First report: Radiological and clinical features
García de Rosa, María Laura; Fano, Virginia; Araoz, H. Verónica; Chertkoff, Lilien Patricia
; Obregon, M. Gabriela
![Icon](/themes/CONICETDigital/images/conicet.png)
Fecha de publicación:
04/2014
Editorial:
Wiley
Revista:
American Journal of Medical Genetics Part A
ISSN:
1552-4825
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH.
Palabras clave:
Achondroplasia
,
Homozygosity
,
Hypochondroplasia
,
Phenotypic Overlap
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
García de Rosa, María Laura; Fano, Virginia; Araoz, H. Verónica; Chertkoff, Lilien Patricia; Obregon, M. Gabriela; Homozygous N540K hypochondroplasia-First report: Radiological and clinical features; Wiley; American Journal of Medical Genetics Part A; 164; 7; 4-2014; 1784-1788
Compartir
Altmétricas