期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 15, 期 5, 页码 511-521出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201648
关键词
cerebellar vermis hypoplasia; Joubert syndrome; molar tooth sign; cerebello-oculo-renal syndrome; oculomotor apraxia; nephronophthisis
资金
- NICHD NIH HHS [K24-HD46712, P30-HD02274] Funding Source: Medline
- NINDS NIH HHS [K23-NS45832] Funding Source: Medline
Joubert syndrome (JS) and related disorders are characterized by the 'molar tooth sign' (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental delay, ataxia, irregular breathing pattern and abnormal eye movements. Combinations of additional features such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations define clinical sub-types. Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified.
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