Results 1 -
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38
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FG syndrome 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; ...
- ... 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. ...
- ... 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 ...
- ... 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. ...
- ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey ... or Free article on PubMed Central
- ... 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. ...
- ... novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and ... van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading ...
- ... Pediatrics. 2020 Jan [cited 2023 Jun 9];145(1):e20193447. doi: ... diagnosis of Asperger syndrome in adults. Dtsch Arztebl Int. 2013 Nov 8 [ ...
- ... 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. ...
- 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. ...