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Results 1 - 8 of 8 for Hypotrichosis 15
  1. ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28. Erratum In: Hum Mol Genet. 2015 Nov 15;24(22):6564. doi: 10.1093/hmg/ddv365. ...
  2. ... the skin and hair (sebaceous glands). More than 15 mutations in the LIPH gene have been found to cause autosomal recessive hypotrichosis, a condition that results in sparse hair growth ( ...
  3. ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ ...
  4. ... dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that ... instability. Am J Med Genet A. 2007 Nov 15;143A(22):2675-81. doi: 10.1002/ajmg. ...
  5. ... features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers ( ... in health and disease. Biochem J. 2006 Mar 15;394(Pt 3):527-43. doi: 10.1042/ ...
  6. ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... hypodontia. Am J Med Genet A. 2007 Feb 15;143(4):390-4. doi: 10.1002/ajmg. ...
  7. ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... 10.1002/ajmg.a.37607. Epub 2016 Mar 15. No abstract available. Citation on PubMed Cluzeau C, ...
  8. ... that feature altered hair texture include: Autosomal recessive hypotrichosis (caused by variants in the DSG4 , LIPH , or ... Asian hair thickness. Hum Mol Genet. 2008 Mar 15;17(6):835-43. Epub 2007 Dec 8. ...