Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Genetics in Medicine, Published online: 09 July 2021; doi:10.1038/s41436-021-01260-4Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Source: Genetics in Medicine - July 9, 2021 Category: Genetics & Stem Cells Authors: Maria Iqbal Reza Maroofian B üşranur Çavdarlı Florence Riccardi Michael Field Siddharth Banka Dalal K. Bubshait Yun Li Jozef Hertecant Shahid Mahmood Baig David Dyment Stephanie Efthymiou Uzma Abdullah Ehtisham Ul Haq Makhdoom Zafar Ali Tobias Scherf Source Type: research