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Results 1 - 6 of 6 for Hypotrichosis 14
  1. RMRP gene 
    ... ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH ... non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. doi: 10.1093/hmg/ddi403. ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  2. Roberts syndrome 
    ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  3. GJA1 gene 
    ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  4. Cartilage-hair hypoplasia 
    ... dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that ... 10.1002/ajmg.a.35604. Epub 2012 Sep 14. Citation on PubMed Martin AN, Li Y. RNase ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  5. Nicolaides-Baraitser syndrome 
    ... P, Paradisi M. A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. J Am Acad Dermatol. 2008 ... Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 ...
    https://medlineplus.gov/.../condition/nicolaides-baraitser-syndrome - Genetics
  6. Hypohidrotic ectodermal dysplasia 
    ... tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and ... j.ejmg.2013.01.012. Epub 2013 Feb 14. Citation on PubMed Trzeciak WH, Koczorowski R. Molecular ...
    https://medlineplus.gov/.../hypohidrotic-ectodermal-dysplasia - Genetics