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Results 1 - 10 of 37 for FG syndrome 4
  1. FG syndrome 
    ... Testing Registry: FG syndrome 2 Genetic Testing Registry: FG syndrome 4 Genetic Testing Registry: FG syndrome 5 Genetic Testing ... OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  2. CASK-related intellectual disability 
    ... Related Disorders National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  3. MED12 gene 
    ... recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. ... A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  4. Sheldon-Hall syndrome 
    ... PubMed Central Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Citation on PubMed or Free article on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  5. MYH3 gene 
    ... on PubMed Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Citation on PubMed or Free article on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  6. FGFR3 gene 
    ... 26. Erratum In: Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriutian [corrected to ... stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5): ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. Hyaline fibromatosis syndrome 
    ... novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and ... van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  8. NBEAL2 gene 
    ... Gahl WA. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of ... H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  9. Kallmann syndrome 
    ... 456-66. doi: 10.3803/EnM.2015.30.4.456. Citation on PubMed or Free article on PubMed ... hypogonadal syndromes. Front Endocrinol (Lausanne). 2014 Jul 9;5:109. ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  10. ANTXR2 gene 
    ... extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat ... Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872. Citation ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
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