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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-д хадгалсан:

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	MDPI AG 2026-03-01
Цуврал:	Diagnostics
Нөхцлүүд:	Coffin–Lowry syndrome syndromic intellectual disability <i>RPS6KA3</i> gene
Онлайн хандалт:	https://www.mdpi.com/2075-4418/16/7/990
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!

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

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