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Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

BACKGROUND: Congenital hereditary non‐progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorde...

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Главные авторы: Türkmen, S, Demirhan, O, Hoffmann, K, Diers, A, Zimmer, C, Sperling, K, Mundlos, S
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 2006
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564522/
https://ncbi.nlm.nih.gov/pubmed/16371500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.040030
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