EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: A case report

Küçük Resim Yok

Tarih

2012

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft Hp and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G>A) on exon 7 of p63 gene is presented.

Açıklama

PubMed ID: 23431748

Anahtar Kelimeler

Clefting; Ectodermal dysplasia; Ectrodactyly; EEC syndrome

Kaynak

Genetic Counseling

WoS Q Değeri

Scopus Q Değeri

N/A

Cilt

23

Sayı

4

Künye