Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 06

Das SRTD-Syndrom 6 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen NEK1 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
NEK1
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
SRTD-Syndrom (Short-rib thoracic dysplasia) 19

Referenzen:

1.

Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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2.

El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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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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4.

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

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5.

Silengo MC et. al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

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6.

Spranger J et. al. (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

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7.

Urioste M et. al. (1994) Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

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8.

Motegi T et. al. (1979) Short rib-polydactyly syndrome, Majewski type, in two male siblings.

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9.

Majewski F et. al. (1971) [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].

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10.

Toftager-Larsen K et. al. (1984) Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes.

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11.

Walley VM et. al. (1983) Brief clinical report: short rib-polydactyly syndrome, Majewski type.

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12.

Cooper CP et. al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

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13.

Chess J et. al. (1982) Ocular pathology of the Majewski syndrome.

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14.

Chen H et. al. (1980) Short rib-polydactyly syndrome, Majewski type.

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15.

Urioste M et. al. (1994) Chromosome 4p16 and osteochondroplasias.

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16.

Franceschini P et. al. (1995) Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

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17.

Neri G et. al. (1995) Oral-facial-skeletal syndromes.

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Update: 23. März 2018