Further clinical and molecular delineation of the 15q24 microdeletion syndrome

BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM: To further delineate the...

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Detalhes bibliográficos
Main Authors: Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2011
Assuntos:
Copy-Number Variations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261729/
https://ncbi.nlm.nih.gov/pubmed/22180641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100499
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