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Novel PORCN mutation in a severe case of F ocal D ermal H ypoplasia
Author(s) -
RamirezBotero Andres Felipe,
Eichler Sabrina,
Rolfs Arndt,
Pachajoa Harry
Publication year - 2016
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12146
Subject(s) - hypoplasia , medicine , anatomy , dermatology
Focal dermal hypoplasia is a rare genetic disease characterized 8‐year‐old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.