Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Asphyxierende Thoraxdyplasie 12

Das SRTD-Syndrom 12 (Short-rib thoracic dysplasia) ist eine hereditäre Erkrankung, deren genetischer Hintergrund noch nicht vollständig geklärt ist.

Gliederung

Asphyxierende Thoraxdyplasie
Asphyxierende Thoraxdyplasie 01
Asphyxierende Thoraxdyplasie 02
Asphyxierende Thoraxdyplasie 03
Asphyxierende Thoraxdyplasie 04
Asphyxierende Thoraxdyplasie 05
Asphyxierende Thoraxdyplasie 06
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.

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

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3.

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

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4.

Beighton P et al. (1992) International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone.

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5.

Yang SS et al. (1991) Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.

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6.

Lin AE et al. (1991) Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

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7.

None (1991) Short rib syndrome--Beemer type in sibs.

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8.

Balci S et al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

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9.

None (1988) A lethal short rib syndrome without polydactyly.

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10.

None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.

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11.

Beemer FA et al. (1983) A new short rib syndrome: report of two cases.

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12.

None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

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13.

Cideciyan D et al. (1993) New findings in short rib syndrome.

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14.

Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

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15.

Kovács N et al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.

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16.

OMIM.ORG article

Omim 269860 [^]
Update: 10. Mai 2019