Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome

Taskiran EZ, Karaosmanoglu B, Kosukcu C, Dogan OA, Taylan-Sekeroglu H, Simsek-Kiper PO, Utine EG, Boduroglu K, Alikasifoglu M. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. Am J Med Genet A. 2017 Dec;173(12):3143-3152.