A Novel Mutation in the PORCN Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia | Zendy

Diane Maalouf | Zendy

Open Access

A Novel Mutation in the <emph type="ital">PORCN</emph> Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia

Author(s) -

Diane Maalouf

Publication year - 2012

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archdermatol.2011.343

Subject(s) - hypoplasia , syndactyly , medicine , exon , genodermatosis , ectodermal dysplasia , x chromosome , dysplasia , anatomy , pathology , gene , biology , genetics , dermatology

Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases.

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