SRTD-Syndrom (Short-rib thoracic dysplasia) 10

Das SRTD-Syndrom 10 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen IFT172 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
		IFT172
	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

1.	Halbritter J et. al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. [^]

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

3.	Huber C et. al. (2012) Ciliary disorder of the skeleton. [^]

Update: 23. Juni 2016