Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

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Van Esch , Hilde; Rosser , Elisabeth M; Janssens , Sandra; Van Ingelghem , Ingrid; Loeys , Bart; Menten , Björn;
  • Publisher: BMJ Publishing Group
  • Related identifiers: doi: 10.1136/jmg.2010.077586
  • Subject: Clinical genetics | Cytogenetics | Connective tissue disease

International audience; Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenita... View more
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