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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

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Observations on the methodology for quantitative risk assessment of dermal allergens
Mensen kunnen allergische reacties krijgen als zij door een stof worden 'gesensibiliseerd', wat betekent dat ze na een volgend… 
2006
2006
Market power and the need for regulation in the German airport market
With the increasing profit orientation of German airport operators the question as to weather they possess market power is… 
1996
1996
Focal dermal hypoplasia : report of a family with 7 affected women in 3 generations
Focal dermal hypoplasia is a rare, developmental syndrome, inherited as an X-linked disorder. Our report deals with a family… 
Review
1983
Review
1983
Relationship Between the Primary Dermal Irritation Index and Ocular Irritation
AbstractThe hypothesis that a chemical or product found to be irritating to animal skin need not be tested in the Draize Eye… 
1979
1979
[The epidemiological significance of neo-natal parasitism with microfilariae of Onchocerca volvulus (author's transl)].
Between April 1977 and June 1978, 214 babies born of 210 mothers infected with Onchocerciasis, were examined at the maternity of… 
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… 
1975
1975
Striated Osteopathy in Focal Dermal Hypoplasia
To the Editor.— We have read with great interest the article in theArchivesby Gottlieb et al (108:551-553, 1973) concerning a… 
1975
1975
Focal dermal hypoplasia syndrome.
  • W. Gordon
  • South African medical journal = Suid-Afrikaanse…
  • 1975
  • Corpus ID: 43337298
A patient with focal dermal hypoplasia syndrome is presented. In addition to the usual skin lesions, this patient showed two… 
1972
1972
Enzymes of the conversion of succinate to glutamate in extracts of rumen microorganisms.
Cell-free extracts of mixed rumen microorganisms were incubated in vitro in order to determine the existence and nature of… 
1965
1965
CONGENITAL FOCAL DERMAL HYPOPLASIA.