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Hypotrichosis 10
- ... activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010 May;31(5):602-10. doi: 10.1002/humu.21235. Citation on PubMed ...
- ... the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol. 2005 Nov;125(5):1077-9. doi: 10.1111/j.0022-202X.2005.23903.x. No ...
- ... receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May ...
- ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28. Erratum ...
- ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. EDAR gene mutations account for about 10 percent of all cases of hypohidrotic ectodermal dysplasia. ...
- ... ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH ... hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. Epub 2005 Oct 27. Citation ...
- ... hair follicles, sweat glands, and teeth. ... and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ...
- ... 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 ...
- ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Citation on PubMed Han D, ...