Das SRTD-Syndrom 1 (Short-rib thoracic dysplasia) ist eine hereditäre Erkrankung, deren genetischer Hintergrund noch nicht vollständig geklärt ist.
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None (1980) Renal lesion in Jeune's syndrome. ![]() |
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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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Morgan NV et al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. ![]() |
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JEUNE M et al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics]. ![]() |
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MAROTEAUX P et al. (1964) [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME]. ![]() |
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Lehman AM et al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. ![]() |
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Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. ![]() |
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Huber C et al. (2012) Ciliary disorder of the skeleton. ![]() |
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Hopper MS et al. (1979) Polyhydramnios associated with congenital pancreatic cysts and asphyxiating thoracic dysplasia. A case report. ![]() |
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Allen AW et al. (1979) Ocular findings in thoracic-pelvic-phalangeal dystrophy. ![]() |
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Cortina H et al. (1979) The wide spectrum of the asphyxiating thoracic dysplasia. ![]() |
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Bard LA et al. (1978) Retinal involvement in thoracic-pelvic-phalangeal dystrophy. ![]() |
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Kozlowski K et al. (1976) Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. ![]() |
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Tahernia AC et al. (1977) "Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary. ![]() |
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Oberklaid F et al. (1977) Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. ![]() |
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Yang SS et al. (1976) Lethal short-limbed chondrodysplasia in early infancy. ![]() |
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Friedman JM et al. (1975) The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. ![]() |
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Rinaldi S et al. (1990) Jeune syndrome associated with cystinuria: report of two sisters. ![]() |
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Giorgi PL et al. (1990) Mild form of Jeune syndrome in two sisters. ![]() |
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Whitley CB et al. (1987) Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). ![]() |
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Singh M et al. (1988) Hydrocephalus in asphyxiating thoracic dystrophy. ![]() |
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Wilson DJ et al. (1987) Retinal dystrophy in Jeune's syndrome. ![]() |
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Burn J et al. (1986) Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. ![]() |
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Schinzel A et al. (1985) Prenatal sonographic diagnosis of Jeune syndrome. ![]() |
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Todd DW et al. (1986) A thoracic expansion technique for Jeune's asphyxiating thoracic dystrophy. ![]() |
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OMIM.ORG article Omim 208500![]() |