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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主要な著者: 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 
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Human Genetics 2007
主題:
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950929/
https://ncbi.nlm.nih.gov/pubmed/17564974
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