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Hypotrichosis 4
- ... 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 ...
- ... Orlow SJ, Christiano AM. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J ...
- ... 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. ...
- ... 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. ...
- ... 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; ...
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... 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 ...