Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 18

Das SRTD-Syndrom 18 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen IFT43 hervorgerufen wird.

Gliederung

SRTD-Syndrom (Short-rib thoracic dysplasia)
SRTD-Syndrom (Short-rib thoracic dysplasia) 01
SRTD-Syndrom (Short-rib thoracic dysplasia) 02
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
IFT43
SRTD-Syndrom (Short-rib thoracic dysplasia) 19

Referenzen:

1.

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

[^]
2.

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

[^]
3.

Duran I et. al. (2017) {u'i': [u'IFT43', u'IFT121'], 'content': u'Mutations in IFT-A satellite core component genesandproduce short rib polydactyly syndrome with distinctive campomelia.'}

[^]
Update: 26. September 2018

 

Die Seite verwendet Cookies, um Ihnen den bestmöglichen Service zu gewährleisten. Bitte bestätigen Sie uns kurz per Klick, dass Sie mit der Nutzung von Cookies einverstanden sind: