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Challenges in Diagnosis and Management of Coffin–Lowry Syndrome—Single-Center Experience

<b>Background/Objectives</b>: Coffin–Lowry syndrome (CLS) is a rare X-linked disease caused by pathogenic variants in the <i>RPS6KA3</i> gene. It is generally characterized by syndromic intellectual disability and distinctive facial features, skeletal abnormalities, stimulus-induced drop attacks in...

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Principais autores: Ana Maria Chirilas, Alexandru Cărămizaru, Anca-Lelia Riza, Andreea Mitut-Veliscu, Andrei Costache, Rebecca-Cristiana Șerban, Aritina Morosanu, Carmen Niculescu, Alexandru-Cătălin Pâslaru, Florin Burada, Ioana Streata
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2026-03-01
Colecção:Diagnostics
Assuntos:
Coffin–Lowry syndrome
syndromic intellectual disability
<i>RPS6KA3</i> gene
Acesso em linha:https://www.mdpi.com/2075-4418/16/7/990
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