Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1–MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/...

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Main Authors: Baala, Lekbir , Audollent, Sophie , Martinovic, Jéléna , Ozilou, Catherine , Babron, Marie-Claude , Sivanandamoorthy, Sivanthiny , Saunier, Sophie , Salomon, Rémi , Gonzales, Marie , Rattenberry, Eleanor , Esculpavit, Chantal , Toutain, Annick , Moraine, Claude , Parent, Philippe , Marcorelles, Pascale , Dauge, Marie-Christine , Roume, Joëlle , Merrer, Martine Le , Meiner, Vardiella , Meir, Karen , Menez, Françoise , Beaufrère, Anne-Marie , Francannet, Christine , Tantau, Julia , Sinico, Martine , Dumez, Yves , MacDonald, Fiona , Munnich, Arnold , Lyonnet, Stanislas , Gubler, Marie-Claire , Génin, Emmanuelle , Johnson, Colin A. , Vekemans, Michel , Encha-Razavi, Férechté , Attié-Bitach, Tania 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950929/
https://ncbi.nlm.nih.gov/pubmed/17564974
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