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Results 1 - 9 of 9 for Hypotrichosis 2
  1. DSG4 gene 
    ... mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch ... follicle differentiation and epidermal adhesion: evidence from inherited ... vulgaris. Cell. 2003 Apr 18;113(2):249-60. doi: 10.1016/s0092-8674(03) ...
    https://medlineplus.gov/genetics/gene/dsg4 - Genetics
  2. LIPH gene 
    ... lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2. Citation on PubMed Shimomura Y, Wajid M, Zlotogorski ...
    https://medlineplus.gov/genetics/gene/liph - Genetics
  3. LPAR6 gene 
    ... woolly hair in some people and autosomal recessive hypotrichosis (described above) in others, even among members of the same family. Because of a shared genetic cause and overlapping features, it is uncertain whether these two conditions are separate disorders or part of the ...
    https://medlineplus.gov/genetics/gene/lpar6 - Genetics
  4. RMRP gene 
    ... immune deficiency), elevated cancer risk, sparse hair growth (hypotrichosis), and other signs and symptoms of cartilage-hair ... a similar disorder known as metaphyseal dysplasia without hypotrichosis. This condition is characterized by short stature and ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  5. GJA1 gene 
    ... J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412. Citation on PubMed Wang H, ... totalis syndrome. Hum Mol Genet. 2015 Jan ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  6. WNT10A gene 
    ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... The major features of SSPS include missing teeth, hypotrichosis, palmoplantar keratoderma, and fluid-filled sacs (cysts) on ...
    https://medlineplus.gov/genetics/gene/wnt10a - Genetics
  7. EDA gene 
    ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... cases. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/eda - Genetics
  8. EDAR gene 
    ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... cases. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/edar - Genetics
  9. EDARADD gene 
    ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive ...
    https://medlineplus.gov/genetics/gene/edaradd - Genetics