Title: A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.
Authors: Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, Erol A, Yenisert F, Catalbas K, Ozbakir DH, Kocagil S, Cilingir O, Ergun MA, Kaplan OI
Journal: Eur J Hum Genet
Published: 2025-07-04