Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SRTD-Syndrom (Short-rib thoracic dysplasia) 12

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

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
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.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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Update: 26. September 2018

 

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