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Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
Laugel, V; Dalloz, C; Tobias, E S; Tolmie, J L; Martin-Coignard, D; Drouin-Garraud, V; Valayannopoulos, V; Sarasin, A; Dollfus, H.
Affiliation
  • Laugel V; Laboratory of Medical Genetics, Faculte de Medecine, 11 rue Humann, F-67000 Strasbourg, France. vincent.laugel@chru-strasbourg.fr
J Med Genet ; 45(9): 564-71, 2008 Sep.
Article in En | MEDLINE | ID: mdl-18628313
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Cataract / DNA Helicases / DNA Repair Enzymes / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: J Med Genet Year: 2008 Document type: Article Affiliation country: Francia Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Cataract / DNA Helicases / DNA Repair Enzymes / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: J Med Genet Year: 2008 Document type: Article Affiliation country: Francia Country of publication: Reino Unido