Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
Sex Dev
; 10(1): 16-22, 2016.
Article
em En
| MEDLINE
| ID: mdl-27055092
ABSTRACT
Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in â¼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptor Tipo 1 de Fator de Crescimento de Fibroblastos
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Transtorno 46,XY do Desenvolvimento Sexual
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Cardiopatias Congênitas
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Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
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Newborn
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Pregnancy
Idioma:
En
Revista:
Sex Dev
Assunto da revista:
CIENCIAS DO COMPORTAMENTO
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Egito