19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without...

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Vydáno v:Mol Cytogenet
Hlavní autoři: Dong, Hai-Yun, Zeng, Hui, Hu, Yi-Qiao, Xie, Li, Wang, Jian, Wang, Xiu-Ying, Yang, Yi-Feng, Tan, Zhi-Ping
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5034553/
https://ncbi.nlm.nih.gov/pubmed/27688808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0282-4
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