Article
Further phenotypic and genetic variation in ADULT syndrome.
American journal of medical genetics. Part A - 15 Nov 2006
Reisler Tom T, Patton Michael A, Meagher Peter P J
Abstract excerpt
ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth. It is a rare autosomal dominant disorder which has been linked to mutation in the p63 gene. The p63 gene has been described in...
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