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Hypotrichosis 2
- ... mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch ... follicle differentiation and epidermal adhesion: evidence from inherited ... vulgaris. Cell. 2003 Apr 18;113(2):249-60. doi: 10.1016/s0092-8674(03) ...
- ... follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. doi: 10.1016/s0092-8674(03) ...
- ... 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 Oct 2. Citation on PubMed Shimomura Y, Wajid M, Zlotogorski ...
- ... 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 Oct 2. Citation on PubMed Shimomura Y. Congenital hair loss ...
- ... woolly hair in some people and autosomal recessive hypotrichosis (described above) in others, even among members of the same family. Because of a shared genetic cause and overlapping features, it is uncertain whether these two conditions are separate disorders or part of the ...
- ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... 14. Citation on PubMed Hou F, Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are both ...
- ... hair syndrome Comel-Netherton syndrome Ichthyosiform erythroderma with hypotrichosis and hyper-IgE Ichthyosis linearis circumflexa ILC NETH ... 21 families. J Invest Dermatol. 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747. ...
- ... 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 ...
- ... J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412. Citation on PubMed Wang H, ... 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 ...