Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia)

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

Gliederung

Nephronophthise
Nephronophthise 1
Nephronophthise 10
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 2
Nephronophthise 3
Nephronophthise 4
Nephronophthise 5
Nephronophthise 6
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9

Referenzen:

1.

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

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2.

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

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3.

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

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