Please use this identifier to cite or link to this item:
Title: Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
Authors: Pranoot Tanpaiboon
Rekwan Sittiwangkul
Prapai Dejkhamron
Metawee Srikummool
Warissara Sripathomsawat
Piranit Kantaputra
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Aug-2009
Abstract: Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation. Five cases have been reported. We report on a new patient with ACFS syndrome. In addition to the characteristic features of ACFS, the reported patient also has mild scoliosis, hemivertebrae and subclinical hyperthyroidism. These additional features may expand the phenotypic spectrum of the syndrome. © 2009 Wiley-Liss, Inc.
ISSN: 15524833
Appears in Collections:CMUL: Journal Articles

Files in This Item:
There are no files associated with this item.

Items in CMUIR are protected by copyright, with all rights reserved, unless otherwise indicated.