Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Joubert-Syndrom 03

Das Joubert-Syndrom 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen im AHI1-Gen hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 01
Joubert-Syndrom 02
Joubert-Syndrom 03
AHI1
Joubert-Syndrom 04
Joubert-Syndrom 05
Joubert-Syndrom 06
Joubert-Syndrom 07
Joubert-Syndrom 08
Joubert-Syndrom 09
Joubert-Syndrom 10
Joubert-Syndrom 11
Joubert-Syndrom 12
Joubert-Syndrom 13
Joubert-Syndrom 14
Joubert-Syndrom 15
Joubert-Syndrom 16
Joubert-Syndrom 17
Joubert-Syndrom 18
Joubert-Syndrom 19
Joubert-Syndrom 20
Joubert-Syndrom 21
Joubert-Syndrom 22
Joubert-Syndrom 23
Joubert-Syndrom 24
Joubert-Syndrom 25
Joubert-Syndrom 26
Joubert-Syndrom 27
Joubert-Syndrom 28
Joubert-Syndrom 29
Joubert-Syndrom 30
Joubert-Syndrom 31
Joubert-Syndrom 32
Joubert-Syndrom 33
Joubert-Syndrom 34
Joubert-Syndrom 35

Referenzen:

1.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

external link
2.

Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

external link
3.

Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

external link
4.

Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

external link
5.

Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

external link
6.

Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

external link
7.

Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

external link
8.

Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

external link
9.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

external link
10.

Lagier-Tourenne C et al. (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23.

external link
11.

OMIM.ORG article

Omim 608629 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum