Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 02

Das SRTD-Syndrom 2 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen IFT80 hervorgerufen wird.

Gliederung

SRTD-Syndrom (Short-rib thoracic dysplasia)
SRTD-Syndrom (Short-rib thoracic dysplasia) 01
SRTD-Syndrom (Short-rib thoracic dysplasia) 02
IFT80
SRTD-Syndrom (Short-rib thoracic dysplasia) 03
SRTD-Syndrom (Short-rib thoracic dysplasia) 04
SRTD-Syndrom (Short-rib thoracic dysplasia) 05
SRTD-Syndrom (Short-rib thoracic dysplasia) 06
SRTD-Syndrom (Short-rib thoracic dysplasia) 07
SRTD-Syndrom (Short-rib thoracic dysplasia) 08
SRTD-Syndrom (Short-rib thoracic dysplasia) 09
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 11
SRTD-Syndrom (Short-rib thoracic dysplasia) 12
SRTD-Syndrom (Short-rib thoracic dysplasia) 13
SRTD-Syndrom (Short-rib thoracic dysplasia) 14
SRTD-Syndrom (Short-rib thoracic dysplasia) 15
SRTD-Syndrom (Short-rib thoracic dysplasia) 16
SRTD-Syndrom (Short-rib thoracic dysplasia) 17
SRTD-Syndrom (Short-rib thoracic dysplasia) 18
SRTD-Syndrom (Short-rib thoracic dysplasia) 19

Referenzen:

1.

Beales PL et. al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

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2.

Tüysüz B et. al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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3.

Cavalcanti DP et. al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.

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4.

Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

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5.

Huber C et. al. (2012) Ciliary disorder of the skeleton.

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Update: 28. März 2018