Short-rib thoracic dysplasia with or without polydactyly is a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
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Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. |
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Takamine Y et al. (2004) Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. |
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Elçioglu NH et al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group. |
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Lehman AM et al. (2010) Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. |
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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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JEUNE M et al. (1955) [Asphyxiating thoracic dystrophy with familial characteristics]. |
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Morgan NV et al. (2003) A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. |
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Kajantie E et al. (2001) Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care. |
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Labrune P et al. (1999) Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. |
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Takada F et al. (1994) Asphyxiating thoracic dystrophy: surgical correction and 2-year follow-up in a girl. |
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Zack P et al. (1995) Spondyloenchondromatosis: syndromic identity and evolution of the phenotype. |
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Landing BH et al. (1980) Morphometric analysis of liver lesions in cystic diseases of childhood. |
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None (1980) Renal lesion in Jeune's syndrome. |
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Hanissian AS et al. (1967) Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome. |
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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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Elçioğlu N et al. (1996) Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. |
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None (1994) Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. |
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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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Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. |
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Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski. |
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Duran I et al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. |
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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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Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
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Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. |
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Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. |
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Huber C et al. (2012) Ciliary disorder of the skeleton. |
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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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Cideciyan D et al. (1993) New findings in short rib syndrome. |
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Wikipedia article Wikipedia EN (Asphyxiating_thoracic_dysplasia) |