| 1 | FSS, MYH3
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| Genotype-phenotype relationships in Freeman-Sheldon syndrome.
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| Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ.
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| Am J Med Genet A 164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25.
2014
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| 2 | FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
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| Thick filament diseases.
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| Oldfors A, Lamont PJ.
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| Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
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| 3 | SHHS, FSS, MYH3
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| Freeman-Sheldon syndrome and Sheldon-Hall syndrome: contracting new genotypes.
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| Wagner LA, Mazarei G.
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| Clin Genet 70(3):192-3. 2006
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| 4 | FSS, MYH3, SHHS
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| Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
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| Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ.
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| Nat Genet 38(5):561-5. Epub 2006 Apr 16. 2006
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| 5 | FSS
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| Clinical characteristics and natural history of Freeman-Sheldon syndrome.
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| Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ.
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| Pediatrics 117(3):754-62. 2006
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| 6 | FSS, MYH3, SHHS
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| Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
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| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.
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| Am J Hum Genet 72(3):681-90. 2003
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| 7 | FSS
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| Progressive neurological deterioration in a child with distal arthrogryposis and whistling face.
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| Lev D, Yanoov M, Weintraub S, Lerman-Sagie T.
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| J Med Genet 37(3):231-3. No abstract available. 2000
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