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Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

BACKGROUND: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the 6p25.3p23 region. An approximately 2.1 Mb terminal region ha...

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Detalles Bibliográficos
Autores principales:	Qi, Zhongxia, Jeng, Linda Jo Bone, Slavotinek, Anne, Yu, Jingwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502905/ https://www.ncbi.nlm.nih.gov/pubmed/26174853 http://dx.doi.org/10.1186/s12920-015-0113-1

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