SRTD-Syndrom (Short-rib thoracic dysplasia) 13

Das SRTD-Syndrom 13 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CEP120 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
		CEP120
	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.	Shaheen R et. al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [^]

2.	Roosing S et. al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. [^]

Update: 26. September 2018