Chromosome and p63 gene analysis of an infant with ectrodactyly-split hand and foot malformation

DEMİRHAN O., TASTEMIR D., NARLI N., SOYUPAK S., OZCAN K.

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.37, no.3, pp.167-171, 2007 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 3
  • Publication Date: 2007
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.167-171
  • Çukurova University Affiliated: Yes

Abstract

Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals and metatarsals, which are frequently associated with other phenotypic abnormalities. We aimed to investigate the genetic pathway of SHFM in a child.