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Results 1 - 8 of 8 for Kallmann syndrome 4
  1. Kallmann syndrome 
    ... of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 ... PubMed Central Kim SH. Congenital Hypogonadotropic Hypogonadism ... Future. Endocrinol Metab (Seoul). 2015 Dec;30(4):456-66. doi: 10.3803/EnM.2015.30. ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  2. FGFR1 gene 
    ... of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  3. PROKR2 gene 
    ... Dode C, Rondard P. PROK2/PROKR2 Signaling and Kallmann Syndrome. Front Endocrinol (Lausanne). 2013 Apr 12;4:19. doi: 10.3389/fendo.2013.00019. eCollection ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
  4. PROK2 gene 
    ... Dode C, Rondard P. PROK2/PROKR2 Signaling and Kallmann Syndrome. Front Endocrinol (Lausanne). 2013 Apr 12;4:19. doi: 10.3389/fendo.2013.00019. eCollection ...
    https://medlineplus.gov/genetics/gene/prok2 - Genetics
  5. CHD7 gene 
    ... chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008. ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  6. ANOS1 gene 
    ... J, Moraine C, et al. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4. doi: 10.1073/pnas.89.17.8190. Citation ...
    https://medlineplus.gov/genetics/gene/anos1 - Genetics
  7. SOX10 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Kallmann syndrome More About This Health Condition DOM dominant megacolon, ... Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec;81(6): ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  8. Congenital fibrosis of the extraocular muscles 
    ... vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics