A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

BACKGROUND: Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported. CASE PRESENTATION: Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gen...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Xie, Bobo, Fan, Xin, Lei, Yaqin, Chen, Rongyu, Wang, Jin, Fu, Chunyun, Yi, Shang, Luo, Jingsi, Zhang, Shujie, Yang, Qi, Chen, Shaoke, Shen, Yiping
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4886423/
https://ncbi.nlm.nih.gov/pubmed/27247625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0251-y
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