Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Asphyxierende Thoraxdyplasie 08
Asphyxierende Thoraxdyplasie 09
Asphyxierende Thoraxdyplasie 10
Asphyxierende Thoraxdyplasie 11
Asphyxierende Thoraxdyplasie 12
Asphyxierende Thoraxdyplasie 13
Asphyxierende Thoraxdyplasie 14
Asphyxierende Thoraxdyplasie 15
Asphyxierende Thoraxdyplasie 16
Asphyxierende Thoraxdyplasie 17
Asphyxierende Thoraxdyplasie 18
Asphyxierende Thoraxdyplasie 19

Referenzen:

1.

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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2.

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

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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.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

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

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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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18.

OMIM.ORG article

Omim 263520 [^]
19.

Orphanet article

Orphanet ID 474 [^]
Update: 10. Mai 2019