Father-to-daughter transmission of Corne
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Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont
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Article
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2006
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John Wiley and Sons
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English
⚖ 246 KB
Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reporte