A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that cause...

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Autors principals: Krakowiak, P A, O'Quinn, J R, Bohnsack, J F, Watkins, W S, Carey, J C, Jorde, L B, Bamshad, M
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712403/
https://ncbi.nlm.nih.gov/pubmed/9012416
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