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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
- ... 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 ...
- ... in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. doi: 10.1038/sj.jid.5700251. Citation on PubMed
- ... 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 ...
- ... P, Paradisi M. A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S92-8. doi: 10.1016/j.jaad.2008.05.016. Citation on ...
- ... 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. ...
- ... Acta. 2008 Mar;1783(3):455-66. doi: 10.1016/j.bbamcr.2007.11.016. Epub 2007 Dec 8. Citation on PubMed
- ... 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 ...