Results 1 -
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16
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Hypotrichosis 3
- ... 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, ... recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927- ...
- ... lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. ...
- ... recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247- ...
- ... 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)00273-3. Citation on PubMed Korge BP, Hamm H, Jury ...
- ... ribonucleoprotein assembly. Biochim Biophys Acta. 2008 Mar;1783(3):455-66. doi: 10.1016/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 ...
- ... hair syndrome Comel-Netherton syndrome Ichthyosiform erythroderma with hypotrichosis and hyper-IgE Ichthyosis linearis circumflexa ILC NETH ... intronic mutations. J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid. ...
- ... 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 ...
- ... recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 ... recessive hypotrichosis in 13 Pakistani families. Br J Dermatol. 2009 ...
- ... 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 ...