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Results 1 - 10 of 11 for FG syndrome 5
  1. FG syndrome 
    ... Testing Registry: FG syndrome 4 Genetic Testing Registry: FG syndrome 5 Genetic Testing Registry: FG syndrome FG syndrome type ... FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; FGS5 PubMed Briault S, Hill R, Shrimpton A, ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  2. Kallmann syndrome 
    ... Rubio Almanza M, Tome Fernandez-Ladreda M, Debray FG, Bours V, Beckers A. Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. Front Endocrinol (Lausanne). 2014 Jul 9;5:109. doi: 10.3389/fendo.2014.00109. eCollection ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  3. Sheldon-Hall syndrome 
    ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  4. Freeman-Sheldon syndrome 
    ... Citation on PubMed Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  5. CASK-related intellectual disability 
    ... Najm type National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND ... phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  6. Maffucci syndrome 
    ... not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where ... Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  7. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. doi: 10.1002/ana.20280. Citation ... Miziorko H. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  8. Hyaline fibromatosis syndrome 
    ... Br J Dermatol. 2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769. ... Rokicki D, Dal Peraro M, van der Goot FG. In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  9. Distal arthrogryposis type 1 
    ... Med Genet. 1996 Nov 11;65(4):282-5. doi: 10.1002/(SICI)1096-8628(19961111)65: ... Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 ...
    https://medlineplus.gov/.../condition/distal-arthrogryposis-type-1 - Genetics
  10. Ollier disease 
    ... not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where ... Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
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