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Results 1 - 7 of 7 for Hypotrichosis 3
  1. ... 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, ... recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927- ...
  2. ... recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247- ...
  3. ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...
  4. ... 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 ...
  5. ... recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 ... recessive hypotrichosis in 13 Pakistani families. Br J Dermatol. 2009 ...
  6. ... 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 ...
  7. ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... 1007/s00439-016-1718-y. Epub 2016 Aug 3. Citation on PubMed Zeng B, Zhao Q, Li ...