EEC SYNDROME WITH A DE NOVO MUTATION (c.953G > A) ON EXON 7 OF P63 GENE: A CASE REPORT
Yükleniyor...
Dosyalar
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: a case report: EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip 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
WOS: 000208958600007
PubMed: 23431748
PubMed: 23431748
Anahtar Kelimeler
EEC syndrome, Ectodermal dysplasia, Ectrodactyly, Clefting
Kaynak
Genetic Counseling
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
23
Sayı
4
