What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS

Cornelia de Lange Syndrome (CdLS) is a congenital syndrome (condition present from birth) that affects roughly 1 in 10,000 children. It is caused by a random genetic mutation (alteration in a gene). About 40% of affected individuals appear to have changes in a certain gene (NIPBL) on Chromosome 5; about 5% of patients have mutations…

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Family Ben and his Brothers: Life with 4 boys and CdLS

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Segregation analysis of the KMT2A mutation in the family of CdLS-3. The

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