ISSN:
1546-1718
Quelle:
Nature Archives 1869 - 2009
Thema:
Biologie
,
Medizin
Notizen:
[Auszug] Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable ...
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1038/ng1805
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