Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants

Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants

Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marked by characteristic clinical symptoms of prenatal and post-natal growth retardation, reduced height, and microcephaly caused by variations in PCNT gene locate...

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Bibliographic Details
Main Authors: Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi
Format: Article
Language:English
Published: SpringerOpen 2025-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Autosomal recessive
Failure to thrive
Microcephaly
PCNT
MOPD II
Online Access:https://doi.org/10.1186/s43042-025-00636-4
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