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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… 
National Institutes of Health

Related topics

Related topics

50 relations
Accessory nippleAgenesis of corpus callosumAniridiaAnophthalmos

Narrower (2)

Congenital ectodermal dysplasia of faceFocal facial dermal dysplasia

Papers overview

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Highly Cited
2012
Highly Cited
2012
Nanomaterial transformation and association with fresh and freeze-dried wastewater activated sludge: implications for testing protocol and environmental fate.
Engineered nanomaterials (ENMs) are an emerging class of contaminants entering wastewater treatment plants (WWTPs), and… 
2005
2005
Three cases of focal dermal hypoplasia (Goltz syndrome)
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and… 
2003
2003
An amperometric bi-enzyme sensor for determination of formate using cofactor regeneration.
1997
1997
Expression, Purification, and Properties of the Aldehyde Dehydrogenase Homologous Carboxyl-terminal Domain of Rat 10-Formyltetrahydrofolate Dehydrogenase*
The liver cytosolic enzyme, 10-formyltetrahydrofolate dehydrogenase (FDH) (EC 1.5.1.6) catalyzes two reactions: the NADP… 
1992
1992
Papulonodular dermal mucinosis in lupus erythematosus.
1990
1990
Anophthalmia in the focal dermal hypoplasia syndrome.
We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were… 
Review
1977
Review
1977
Ocular manifestations of focal dermal hypoplasia syndrome.
Although 40 percent of patients with the focal dermal hypoplasia syndrome have ocular abnormalities, to our knowledge, only one… 
Review
1974
Review
1974
Focal dermal hypoplasia
Focal dermal hypoplasia in five sisters and their mother is presented. The lesions present in this family and in eight additional… 
1970
1970
FOCAL DERMAL HYPOPLASIA SYNDROME.
1. Focal Dermal Hypoplasia (FDH), a congenital dysplasia of ectodermal and mesodermal structures, has protean manifestations.2… 
1965
1965
Nevus angiolipomatosus vs focal dermal hypoplasia.
Widespread linear hamartoma of vascular, elastic, adipose, and connective tissue was observed in two girls with another and… 
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