Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Nirupa Murugaesu(University of Pavia), Tim Hubbard(King's College London), L. Lahnstein(University of Cambridge), Büşranur Çavdarlı(Ministry of Health), Melis Kayikci(Jackson Laboratory), Adam Jackson(Sanford Health), Florence Riccardi(Inserm), Lesley C. Adès(The University of Sydney), C. R. Boustred(Jackson Laboratory), David A. Dyment(Children's Hospital of Eastern Ontario), Stéphanie Efthymiou(Queen Mary University of London), I. U. S. Leong(Genomics England), Loukas Moutsianas(Genomics England), Sofia Douzgou(University of Manchester), Michael Field(Hunter Genetics), B. Chabrol(Hôpital d'Enfants), Athanasios Kousathanas(Jackson Laboratory), Dalia Kasperavičiūtė(University of Leeds), Adam Giess(Jackson Laboratory), Marta Bleda(University of Cambridge), Michael Mueller(Genomics England), Alistair T. Pagnamenta(University College London), Prabhu Arumugam(Jackson Laboratory), Tom Fowler(UK Health Security Agency), Florence Molinari(Inserm), Siddharth Banka(University of Manchester), Helen Brittain(Great Ormond Street Hospital), S. E. A. Leigh(Queen Mary University of London), Angela Hamblin(Genomics England), G. C. Chan(Jackson Laboratory), Cécile Mignon‐Ravix(Inserm), R. Jackson(Genomics England), Shahid Mahmood Baig(National Institute for Biotechnology and Genetic Engineering), Uzma Abdullah(Pir Mehr Ali Shah Arid Agriculture University), F. Maleady-Crowe(Genomics England), Mark J. Caulfield(Queen Mary University of London), Zafar Ali(University of Swat), J. Louise Jones(Queen Mary University of London), Reza Maroofian(University College London), Jozef Hertecant(Tawam Hospital), Tobias Scherf de Almeida(Universitätsmedizin Göttingen), Fabrice Lopez(Genomics England), Dalal Bubshait(Imam Abdulrahman Bin Faisal University), John C. Ambrose(Jackson Laboratory), Yun Li(University of Cologne), Jayne Antony(Children's Hospital at Westmead), Ehtisham Ul Haq Makhdoom(National Institute for Biotechnology and Genetic Engineering), Shirley Henderson(Genomics England)
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