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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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.
Affiliation
  • El Hokayem J; Department of Genetics, INSERM U781, Hôpital Necker, Université Paris Descartes, Sorbonne Paris Cité, Paris 75015, France.
J Med Genet ; 49(4): 227-33, 2012 Apr.
Article in En | MEDLINE | ID: mdl-22499340
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Short Rib-Polydactyly Syndrome / Protein Serine-Threonine Kinases / Cell Cycle Proteins / Cytoplasmic Dyneins Limits: Female / Humans / Male / Pregnancy Language: En Journal: J Med Genet Year: 2012 Document type: Article Affiliation country: France Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Short Rib-Polydactyly Syndrome / Protein Serine-Threonine Kinases / Cell Cycle Proteins / Cytoplasmic Dyneins Limits: Female / Humans / Male / Pregnancy Language: En Journal: J Med Genet Year: 2012 Document type: Article Affiliation country: France Country of publication: United kingdom