Focal Dermal Hypoplasia

Known as: Dermal Hypoplasia, Focal, Syndrome, Goltz Gorlin, Syndrome, Goltz 
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1943-2018
0204019432017

Papers overview

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2017
2017
Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only… (More)
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2014
2014
Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome) is an X-linked dominant disorder affecting mainly tissues of ectodermal and… (More)
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2009
2009
The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of… (More)
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Highly Cited
2007
Highly Cited
2007
Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental… (More)
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Highly Cited
2007
Highly Cited
2007
Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal… (More)
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2007
2007
Wnt signaling regulates several aspects of development and tissue homeostasis. Two new studies in this issue uncover the… (More)
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2005
2005
A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies… (More)
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2002
2002
INTRODUCTION Goltz's syndrome or focal dermal hypoplasia is an X-linked dominant disease. Patients suffer from cutaneous, bone… (More)
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1990
1990
We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were… (More)
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1979
1979
A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was… (More)
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