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Titel:

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

Dokumenttyp:
Letter
Autor(en):
Türkmen, S; Demirhan, O; Hoffmann, K; Diers, A; Zimmer, C; Sperling, K; Mundlos, S
Abstract:
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 disorders due to ataxia. In severe cases, patients are unable to ambulate independently, but nevertheless do use bipedal locomotion. METHODS AND RESULTS: Here we present a family with seven affected members,...     »
Zeitschriftentitel:
J Med Genet
Jahr:
2006
Band / Volume:
43
Heft / Issue:
5
Seitenangaben Beitrag:
461-4
Sprache:
eng
Volltext / DOI:
doi:10.1136/jmg.2005.040030
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16371500
Print-ISSN:
0022-2593
TUM Einrichtung:
Fachgebiet Neuroradiologie (Prof. Zimmer)
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