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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2011
Témata:
Copy-Number Variations
On-line přístup: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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