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Results 1 - 10 of 37 for FG syndrome 1
  1. ... FG syndrome 5 Genetic Testing Registry: FG syndrome FG syndrome type 1 National Organization for Rare Disorders (NORD) OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; ...
  2. ... 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. ...
  3. ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX actin-binding protein 280 DKFZp434P031 filamin 1 filamin A, alpha filamin A, alpha (actin binding ...
  4. ... Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. ...
  5. ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey ... or Free article on PubMed Central
  6. ... of SMAD4 account for both LAPS and Myhre syndromes. Am J Med Genet A. 2012 ... Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. ...
  7. ... novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and ... van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading ...
  8. ... Pediatrics. 2020 Jan [cited 2023 Jun 9];145(1):e20193447. doi: ... diagnosis of Asperger syndrome in adults. Dtsch Arztebl Int. 2013 Nov 8 [ ...
  9. ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1. ...
  10. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
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