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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Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2011
Materias:
Copy-Number Variations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261729/
https://www.ncbi.nlm.nih.gov/pubmed/22180641
http://dx.doi.org/10.1136/jmedgenet-2011-100499

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