Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study

<i>Background and Objectives.</i> <b>Primordial dwarfism (PD)</b> is a rare group of genetic conditions where individuals experience severe growth restriction, both in the womb and after birth. From as early as the fetal stage, those affected are significantly smaller than th...

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Bibliographic Details
Main Authors: Alexandru Daniel Jurca, Codruța Diana Petchesi, Sânziana Jurca, Emilia Severin, Aurora Alexandra Jurca, Claudia Maria Jurca
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Medicina
Subjects:
primordial dwarfism
MOPDII
PCNT gene
genetic variability
rare disease
Online Access:https://www.mdpi.com/1648-9144/60/11/1906
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