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Hypotrichosis 8
- ... Hypotrichosis 7 National Organization for Rare Disorders (NORD) HYPOTRICHOSIS 8; HYPT8 HYPOTRICHOSIS 7; HYPT7 HYPOTRICHOSIS 6; HYPT6 PubMed Azeem Z, ... 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 ...
- ... gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. ...
- ... gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247-8. doi: 10.1111/j.0022-202X.2004.22715. ...
- ... 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. ...
- ... j.bbamcr.2007.11.016. Epub 2007 Dec 8. Citation on PubMed
- ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...
- ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... chromatid cohesion. Mol Biol Cell. 2005 Aug;16(8):3908-18. doi: 10.1091/mbc.e04-12- ...
- ... 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 ...
- ... 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 ...
- ... 15;17(6):835-43. Epub 2007 Dec 8. PubMed: 18065779 . Fujimoto A, Nishida N, Kimura R, ... Asian populations. J Hum Genet. 2009 Aug;54(8):461-5. doi: 10.1038/jhg.2009.61. ...