Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and...

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Autors principals: Gulsuner, Suleyman, Tekinay, Ayse Begum, Doerschner, Katja, Boyaci, Huseyin, Bilguvar, Kaya, Unal, Hilal, Ors, Aslihan, Onat, O. Emre, Atalar, Ergin, Basak, A. Nazli, Topaloglu, Haluk, Kansu, Tulay, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2011
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3227090/
https://ncbi.nlm.nih.gov/pubmed/21885617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.126110.111
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