Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short-rib thoracic dysplasia with or without polydactyly 06

Short-rib thoracic dysplasia with or without polydactyly type 6 is an autosomal recessive or digenic recessive disorder caused by mutations in the NEK1 gene.

Systematic

Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with or without polydactyly 01
Short-rib thoracic dysplasia with or without polydactyly 02
Short-rib thoracic dysplasia with or without polydactyly 03
Short-rib thoracic dysplasia with or without polydactyly 04
Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly 06
NEK1
Short-rib thoracic dysplasia with or without polydactyly 07
Short-rib thoracic dysplasia with or without polydactyly 08
Short-rib thoracic dysplasia with or without polydactyly 09
Short-rib thoracic dysplasia with or without polydactyly 10
Short-rib thoracic dysplasia with or without polydactyly 11
Short-rib thoracic dysplasia with or without polydactyly 12
Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly 15
Short-rib thoracic dysplasia with or without polydactyly 16
Short-rib thoracic dysplasia with or without polydactyly 17
Short-rib thoracic dysplasia with or without polydactyly 18
Short-rib thoracic dysplasia with or without polydactyly 19

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

OMIM.ORG article

Omim 263520 [^]
19.

Orphanet article

Orphanet ID 474 [^]
Update: April 29, 2019