Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized ge...

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Detalles Bibliográficos
Autores principales: Dastan, Jila, Chijiwa, Chieko, Tang, Flamingo, Martell, Sally, Qiao, Ying, Rajcan-Separovic, Evica, Lewis, M. E. Suzanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105257/
https://www.ncbi.nlm.nih.gov/pubmed/27832746
http://dx.doi.org/10.1186/s12881-016-0340-0

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