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
