<i>STAG1</i> Disease, Central Precocious Puberty, and Bone Fragility—A Case Report

<i>STAG1</i> Disease, Central Precocious Puberty, and Bone Fragility—A Case Report

<b>Background</b>: Previously reported <i>STAG1</i> gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. <b>Case presentation</b>: We present the case of an 8...

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Main Authors: Rebecca-Cristiana Șerban, Andreea-Mădălina Mituț-Velișcu, Andrei Costache, Luminița-Nicoleta Cima, Carmen Niculescu, Aritina Moroșanu, Anca-Lelia Riza, Ioana Streață
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Diagnostics
Subjects:
<i>STAG1</i>
cohesinopathy
neurodevelopmental delay
central precocious puberty
bone fragility
case report
Online Access:https://www.mdpi.com/2075-4418/15/9/1076
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