Focal dermal hypoplasia: report of a Taiwanese case

Focal dermal hypoplasia: report of a Taiwanese case

Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare X-linked dominant ectodermal and mesodermal disease involving the skin, distal limbs, and eyes. About 95% of the cases appear de novo, and 90% are females. Recent studies reveal that FDH is caused by mutations in the PORCN gene. Female pati...

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Bibliographic Details
Main Authors: Meng-Chi Wu, Sheau-Chiou Chao, Julia Yu-Yun Lee
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2011-06-01
Series:Dermatologica Sinica
Subjects:
Focal dermal hypoplasia
Goltz syndrome
Pathology
PORCN mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S1027811711000346

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http://www.sciencedirect.com/science/article/pii/S1027811711000346

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