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

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

Source :

• Journal of Medical Genetics [ 0022-2593 ] ; 2012-04.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Abnormality, Agenesis, Ciliopathy spectrum, Cleft ovoid radii, Clinical details, Coding exons, Common mesenterium, Compound heterozygosity, Consanguineous, Consanguineous families, Control chromosomes, Corpus callosum agenesis, Cyst, Cytologie pathologiques, Damaging role, Diagnosis criteria, Frameshift mutation, France france, Genet, Genetics, Gingival hamartoma, Hamartoma, Heart defect, Homozygous state, Hopital, Hopital necker, Intestinal malrotation, Kidney cysts, Kinase, Lobulated tongue, Locus, Malformed epiglottis, Malrotation, Medical genetics, Minor differences, Missense, Missense mutation, Missense mutations, Molecular screening, Mutation, Narrow thorax, Nek1, Nek1 locus, Nek1 mutations, Nonsense mutation, Other features, Ovoid, Ovoid tibia, Ovoid tibiae, Polydactyly, Polydactyly syndrome, Polysyndactyly, Postaxial, Postaxial polydactyly, Postaxial polysyndactyly, Preaxial postaxial, Prediction programme, Radiological features, Recurrent sibs, Regions encoding, Renal cysts, Retrognathia, Short ribs, Short syndrome, Short tibia, Skeletal manifestations, Smooth ends, Sorbonne paris, Syndrome, Tibia, Tibia agenesis, Tibial agenesis, Type cases, Type ieiv, Universite paris descartes, Unknown preaxial postaxial, Week gestation.
• Teeft :
  • Abnormality, Agenesis, Ciliopathy spectrum, Cleft ovoid radii, Clinical details, Coding exons, Common mesenterium, Compound heterozygosity, Consanguineous, Consanguineous families, Control chromosomes, Corpus callosum agenesis, Cyst, Cytologie pathologiques, Damaging role, Diagnosis criteria, Frameshift mutation, France france, Genet, Genetics, Gingival hamartoma, Hamartoma, Heart defect, Homozygous state, Hopital, Hopital necker, Intestinal malrotation, Kidney cysts, Kinase, Lobulated tongue, Locus, Malformed epiglottis, Malrotation, Medical genetics, Minor differences, Missense, Missense mutation, Missense mutations, Molecular screening, Mutation, Narrow thorax, Nek1, Nek1 locus, Nek1 mutations, Nonsense mutation, Other features, Ovoid, Ovoid tibia, Ovoid tibiae, Polydactyly, Polydactyly syndrome, Polysyndactyly, Postaxial, Postaxial polydactyly, Postaxial polysyndactyly, Preaxial postaxial, Prediction programme, Radiological features, Recurrent sibs, Regions encoding, Renal cysts, Retrognathia, Short ribs, Short syndrome, Short tibia, Skeletal manifestations, Smooth ends, Sorbonne paris, Syndrome, Tibia, Tibia agenesis, Tibial agenesis, Type cases, Type ieiv, Universite paris descartes, Unknown preaxial postaxial, Week gestation.

Abstract

• https://api.istex.fr/document/AD326BD5055068E4006D616F76F15FF0C7398FB3/fulltext/pdf

Affiliations:

• Australie, Belgique, Brésil, France, Italie, Royaume-Uni
• Angleterre, Auvergne-Rhône-Alpes, Languedoc-Roussillon, Midi-Pyrénées, Nouvelle-Galles du Sud, Occitanie (région administrative), Pays de la Loire, Provence-Alpes-Côte d'Azur, Rhône-Alpes, Région Bretagne, État de São Paulo, Île-de-France
• Le Mans, Lyon, Marseille, Montpellier, Paris, Rennes, Sydney, São Paulo, Toulouse
• Université Paris-Descartes

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002095
• to stream Istex, to step Curation: 002095
• to stream Istex, to step Checkpoint: 000458
• to stream Main, to step Merge: 005800
• to stream Main, to step Curation: 005533

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