Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

BACKGROUND: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for thi...

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Detalhes bibliográficos
Main Authors: Bayrakli, Fatih, Guclu, Bulent, Yakicier, Cengiz, Balaban, Hatice, Kartal, Ugur, Erguner, Bekir, Sagiroglu, Mahmut Samil, Yuksel, Sirin, Ozturk, Ahmet Rasit, Kazanci, Burak, Ozum, Unal, Kars, Hamit Zafer
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3849745/
https://ncbi.nlm.nih.gov/pubmed/24073994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-14-95
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