Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 9

Das SRTD-Syndrom 9 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen IFT140 hervorgerufen wird.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
IFT140
Senior-Loken-Syndrom

Referenzen:

1.

Mendley SR et. al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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2.

Perrault I et. al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

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3.

Schmidts M et. al. (2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

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4.

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

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5.

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

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6.

None (1979) Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

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7.

Robins DG et. al. (1976) Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

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8.

Popović-Rolović M et. al. (1976) Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

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9.

Mainzer F et. al. (1970) Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

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