NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

doi:10.1136/jmedgenet-2011-100717

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Article

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

Journal of medical genetics - 1 Apr 2012

El Hokayem Joyce, Huber Céline, Couvé Adeline, Aziza Jacqueline, Baujat Geneviève, Bouvier Raymonde, Cavalcanti Denise P, Collins Felicity A, Cordier Marie-Pierre, Delezoide Anne-Lise, Gonzales Marie, Johnson Diana, Le Merrer Martine, Levy-Mozziconacci Annie, Loget Philippe, Martin-Coignard Dominique, Martinovic Jelena, Mortier Geert R, Perez Marie-José, Roume Joëlle, Scarano Gioacchino, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

BACKGROUND: The lethal short rib polydactyly syndromes (SRP type I-IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is...

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PMID: 22499340
DOI: 10.1136/jmedgenet-2011-100717

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NEK1

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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.PMID 22499340Read ↗

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