Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Asphyxierende Thoraxdyplasie 01

Das SRTD-Syndrom 1 (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
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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.

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4.

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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8.

Kozlowski K et al. (1976) Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form.

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9.

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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10.

Oberklaid F et al. (1977) Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

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11.

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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14.

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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Turkel SB et al. (1985) Necropsy findings in neonatal asphyxiating thoracic dystrophy.

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Shapira E et al. (1965) Syndrome of incomplete regional achondroplasia (ilium and ribs) with abdominal muscle dysplasia.

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Karjoo M et al. (1973) Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

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Barnes ND et al. (1971) Chest reconstruction in thoracic dystrophy.

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26.

Shokeir MH et al. (1971) Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.

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Pirnar T et al. (1966) Asphyxiating thoracic dystrophy of the newborn.

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31.

Hanissian AS et al. (1967) Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

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32.

None (1980) Renal lesion in Jeune's syndrome.

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33.

Landing BH et al. (1980) Morphometric analysis of liver lesions in cystic diseases of childhood.

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34.

Zack P et al. (1995) Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.

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35.

Takada F et al. (1994) Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl.

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36.

Labrune P et al. (1999) Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

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37.

Kajantie E et al. (2001) Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.

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38.

Morgan NV et al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

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39.

JEUNE M et al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics].

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40.

MAROTEAUX P et al. (1964) [ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME].

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41.

Lehman AM et al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

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42.

OMIM.ORG article

Omim 208500 [^]
Update: 10. Mai 2019