Maddalena Petraroli Antonio Percesepe Maria Piane Francesca Ormitti Eleonora Castellone Margherita Gnocchi Giulia Messina Luca Bernardi Viviana Dora Patianna Susanna Maria Roberta Esposito Maria Elisabeth Street
10.3389/fendo.2023.1018441
Front Endocrinol (Lausanne)
2023 May 10;14:1018441.
mopdii pcnt gene bone dysplasia cerebral aneurysms growth intellectual disability microcephalic osteodysplastic primordial dwarfism short stature
CC BY
https://pubmed.ncbi.nlm.nih.gov/37234811/
Intracranial Aneurysm / complications Kidney Diseases Microcephaly / complications Microcephaly / diagnosis Microcephaly / genetics
Intracranial Aneurysm / complications Kidney Diseases Microcephaly / complications Microcephaly / diagnosis Microcephaly / genetics Case Reports Child Humans Kidney Male Mutation pericentrin Microcephalic Osteodysplastic Primordial Dwarfism, Type II
PMC10206130
37234811
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
2023