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Results 1 - 10 of 18 for Hypotrichosis 4
  1. ... J, Zlotogorski A, Christiano AM. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani ...
  2. ... Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J ...
  3. ... hair of Japanese leads to variable severity of hypotrichosis in adulthood. J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1182-4. doi: 10.1111/j.1468-3083.2012.04526. ...
  4. ... the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014. ...
  5. ... RJ, Panteleyev AA, Nguyen VT, Christiano AM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18; ...
  6. ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... 1007/s00412-006-0072-6. Epub 2006 Jul 4. Citation on PubMed or Free article on PubMed ...
  7. ... hair syndrome Comel-Netherton syndrome Ichthyosiform erythroderma with hypotrichosis and hyper-IgE Ichthyosis linearis circumflexa ILC NETH ... health. Int J Cosmet Sci. 2009 Aug;31(4):247-54. doi: 10.1111/j.1468-2494. ...
  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. ... Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412. Citation on PubMed Wang H, Cao X, ... totalis syndrome. Hum Mol Genet. 2015 Jan ...
  10. ... 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 ...
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