Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
PCDHGC4基因的双等位基因变异会导致一种新型神经发育综合征，其特征为进行性小头畸形、癫痫发作和关节异常。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01260-4
Iqbal, Maria; Maroofian, Reza; Çavdarlı, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gökhan
