Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings

Conclusion: Biallelic variants inPLK4 lead to a syndrome where severe short stature, MCPH, and cognitive impairment are constant features. However, ocular, skeletal, and other neurological manifestations can vary upon the same genetic basis.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research