Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Asphyxierende Thoraxdyplasie 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

Asphyxierende Thoraxdyplasie
Asphyxierende Thoraxdyplasie 01
Asphyxierende Thoraxdyplasie 02
Asphyxierende Thoraxdyplasie 03
Asphyxierende Thoraxdyplasie 04
Asphyxierende Thoraxdyplasie 05
Asphyxierende Thoraxdyplasie 06
NEK1
Asphyxierende Thoraxdyplasie 07
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Referenzen:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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

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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

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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18.

OMIM.ORG article

Omim 263520 external link
19.

Orphanet article

Orphanet ID 474 external link
Update: 14. August 2020
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