Suivi des tests génétiques dans le syndrome de Phelan-McDermid – French

This document provides a detailed guide for genetic follow-up in individuals diagnosed with Phelan-McDermid Syndrome (PMS). It outlines important genetic testing procedures, focusing on both 22q13 deletions and SHANK3 gene variants.

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Tags: chromosome, de novo, french, gene, genetic test, interstitial, microarray, point mutation, ring, shank3, terminal, variant
Author: Catalina Betancur, MD, PhD
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