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Article

Clinical and molecular features of Joubert syndrome and related disorders.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2009

Parisi Melissa A

Abstract excerpt

Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging...

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Identifiers

PMID: 19876931
DOI: 10.1002/ajmg.c.30229
PMCID: PMC2797758

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