Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia

Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia

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.

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Bibliographische Detailangaben
Veröffentlicht in:Congenital anomalies 2016-05, Vol.56 (3), p.138-140
Hauptverfasser: Ramirez‐Botero, Andres Felipe, Eichler, Sabrina, Rolfs, Arndt, Pachajoa, Harry
Format: Artikel
Sprache:eng
Schlagworte:
focal dermal hypoplasia
Genetic counseling
intellectual disability
Mutation
PORCN gene
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Beschreibung
Zusammenfassung: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.
ISSN:0914-3505
1741-4520
DOI:10.1111/cga.12146