Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Amira Masri,Mohammad Shboul,Aisha Khasawneh,Rama Jadallah,Asma ALmustafa,Nathalie Escande-Beillard,Hanan Hamamy,Faris Bakri,Bruno Reversade

Clinical Neurology and Neurosurgery（2020）

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摘要

•This cohort reveals a severe HSAN IV phenotype in Jordanian patients.•All patients manifested global developmental delay, microcephaly and poor weight gain.•The most common mutation in our series is (c.1860_1861insT; p.Pro621fs).•A new mutation variant in c.2170 G > A is reported with probably a milder phenotype.

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关键词

CIPA,HSAN IV,Insensitivity to pain,Children,Jordan

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