A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 278-

  Li, Xuefu ^a   Jiang, Miao ^a   Han, Weitian ^a  

^a Key Laboratory of Reproductive Health of Liaoning Province   (China)

Author keywords

Distal arthrogryposis type 2B; Freeman Sheldon syndrome; New locus

Indexed keywords

ARTHROGRYPOSIS; CASE REPORT; CHILD; DISTAL ARTHROGRYPOSIS TYPE 2B; GENE DELETION; GENE LOCUS; HETEROZYGOSITY; HUMAN; KARYOTYPE; LETTER; MALE; NASOLABIAL FOLD; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS;

ARTHROGRYPOSIS; HUMANS; MALE;

EID: 84878648185     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.02.004     Document Type: Letter

References (5)

1. Hofmann K., Becker J., Heller R., Boute O., Andrieux J., Hoyer J., Ekici A.B., Reis A., Rauch A. 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics 2011, 54:e495-e500.
2. Stevenson D.A., Carey J.C., Palumbos J., Rutherford A., Dolcourt J., Bamshad M.J. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006, 117:754-762.
3. Toydemir R.M., Rutherford A., Whitby F.G., Jorde L.B., Carey J.C., Bamshad M.J. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics 2006, 38:561-565.
4. Toydemir R.M., Bamshad M.J. Sheldon-Hall syndrome. Orphanet Journal of Rare Diseases 2009, 4:11.
5. Krakowiak P.A., Bohnsack J.F., Carey J.C., Bamshad M. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). American Journal of Medical Genetics 1998, 76:93-98.