Short-rib thoracic dysplasia with or without polydactyly 06

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

Neri G et al. (1995) Oral-facial-skeletal syndromes.

Franceschini P et al. (1995) Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

Urioste M et al. (1994) Chromosome 4p16 and osteochondroplasias.

Chen H et al. (1980) Short rib-polydactyly syndrome, Majewski type.

Chess J et al. (1982) Ocular pathology of the Majewski syndrome.

Walley VM et al. (1983) Brief clinical report: short rib-polydactyly syndrome, Majewski type.

Toftager-Larsen K et al. (1984) Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes.

Majewski F et al. (1971) [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].

Motegi T et al. (1979) Short rib-polydactyly syndrome, Majewski type, in two male siblings.

Urioste M et al. (1994) Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

Spranger J et al. (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Silengo MC et al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

Cooper CP et al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

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

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

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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