Associated Papers
WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.
Lin X et al.
European Journal of Medical Research, 2025
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Pavinato L et al.
American Journal of Medical Genetics. Part A, 2021
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Skraban CM et al.
American Journal of Human Genetics, 2017
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