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Atrichia

Known as: ATRICHOSIS 
National Institutes of Health

Related topics

Related topics

2 relations
AlopeciaEndocrine System Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Review
2013
Review
2013
Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: an update.
Highly Cited
2005
Highly Cited
2005
NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth
X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by… 
Highly Cited
2001
Highly Cited
2001
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
Generalized atrichia with papules is a rare disorder characterized by loss of hair shortly after birth and development of… 
Highly Cited
2001
Highly Cited
2001
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hir… 
1999
1999
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.
Atrichia with papular lesions is a rare autosomal recessive form of alopecia characterized by hair loss soon after birth and the… 
1996
1996
A unique variant of a homeobox gene related to Drosophila cut is expressed in mouse testis.
Mammalian homologues of the Drosophila cut homeobox gene encode transcriptional repressors that are involved in tissue-specific… 
1992
1992
Atrichia and papular lesions: report of a case.
We report a case of atrichia with papular lesions in a 4-year-old girl. The scalp was completely hairless since birth, except for… 
1991
1991
Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome
We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and… 
Highly Cited
1985
Highly Cited
1985
Ichthyosis follicularis with alopecia and photophobia.
We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny… 
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