Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability

Author:

Bogliş Alina,Cosma Adriana S.,Tripon Florin,Bãnescu Claudia

Funder

Universitatea de Medicină şi Farmacie din Tîrgu Mureş

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference24 articles.

1. Genetics of X-Linked Intellectual Disability;Schwartz;Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability,2016

2. Genetics of X-linked Intellectual Disability;Lisik,2017

3. A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations;Santos-Reboucas;Eur J Hum Genet,2014

4. Next-generation sequencing in X-linked intellectual disability;Tzschach;Eur J Hum Genet,2015

5. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability;Sireteanu;Rev Romana Med Lab,2014

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