Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 2

Der Typ 2 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM216 hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 12
Joubert-Syndrom 13
Joubert-Syndrom 14
Joubert-Syndrom 15
Joubert-Syndrom 16
Joubert-Syndrom 17
Joubert-Syndrom 19
Joubert-Syndrom 2
TMEM216
Joubert-Syndrom 23
Joubert-Syndrom 24
Joubert-Syndrom 27
Joubert-Syndrom 3
Joubert-Syndrom 31
Joubert-Syndrom 34
Joubert-Syndrom 6
Joubert-Syndrom 7
Joubert-Syndrom 8
Joubert-Syndrom 9
Joubert-Syndroms 11
SUFU

Referenzen:

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: 23. März 2018