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
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