Das SRTD-Syndrom 12 (Short-rib thoracic dysplasia) ist eine hereditäre Erkrankung, deren genetischer Hintergrund noch nicht vollständig geklärt ist.
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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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Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
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Huber C et al. (2012) Ciliary disorder of the skeleton. |
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Beighton P et al. (1992) International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. |
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Yang SS et al. (1991) Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. |
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Lin AE et al. (1991) Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. |
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None (1991) Short rib syndrome--Beemer type in sibs. |
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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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None (1988) A lethal short rib syndrome without polydactyly. |
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None (1983) Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. |
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Beemer FA et al. (1983) A new short rib syndrome: report of two cases. |
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None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. |
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Cideciyan D et al. (1993) New findings in short rib syndrome. |
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Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. |
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Kovács N et al. (2006) High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. |
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OMIM.ORG article Omim 269860 |