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Results 1 - 10 of 14 for Hypotrichosis 8
  1. ... 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 ...
  2. ... gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. ...
  3. ... 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. ...
  4. ... 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. ...
  5. ... j.bbamcr.2007.11.016. Epub 2007 Dec 8. Citation on PubMed
  6. ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...
  7. ... 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- ...
  8. ... 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 ...
  9. ... 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 ...
  10. ... 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. ...
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