Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 02

Joubert syndrome type 2 is an autosomal recessive disorder caused by mutations in the TMEM216 gene.

Systematic

Joubert syndrome
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Joubert syndrome 02
TMEM216
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References:

1.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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2.

Verloes A et. al. (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

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3.

Ahdab-Barmada M et. al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

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4.

Paavola P et. al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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5.

Merscher S et. al. (1997) A 5.5-Mb high-resolution integrated map of distal 11q13.

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6.

Pattyn A et. al. (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis.

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7.

Roume J et. al. (1997) Genetic heterogeneity of Meckel syndrome.

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8.

Roume J et. al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

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Update: Sept. 26, 2018