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FG syndrome 5
- ... Testing Registry: FG syndrome 4 Genetic Testing Registry: FG syndrome 5 Genetic Testing Registry: FG syndrome FG syndrome Disease ... FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; FGS5 PubMed Briault S, Hill R, Shrimpton A, ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 ...
- ... the MED12 gene have been found to cause FG syndrome, which is characterized by intellectual disability, behavioral problems, ... anal opening (imperforate anus).The mutations that cause FG syndrome each change a single protein building block (amino ...
- ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX ... disorders. Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. ...
- ... Disease InfoSearch 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. ...
- ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent ... phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. ...