Asphyxierende Thoraxdyplasie

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

Merrill AE et al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Dagoneau N et al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Schmidts M et al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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.

Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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

Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

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

Balci S et al. (1991) Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Elçioglu NH et al. (2002) Diagnostic dilemmas in the short rib-polydactyly syndrome group.

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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