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Putative Founder Effect of Arg338* AP4M1 (SPG50) Variant Causing Severe Intellectual Disability, Epilepsy and Spastic Paraplegia: Report of Three Families

Aurelie Becker, Charlotte Felici,Laetitia Lambert,Anne de Saint Martin,Marie-Therese Abi-Warde,Elise Schaefer, Christian Zix,Mina Zamani,Saeid Sadeghian,Jawaher Zeighami,Tahereh Seifi,Reza Azizimalamiri,Gholamreza Shariati,Hamid Galehdari,Mareike Selig,Can Ding,Sarah Duerinckx,Isabelle Pirson,Marc Abramowicz,Guillemette Clement,Bruno Leheup,Philippe Jonveaux,Genevieve Lefort,Myriam Bronner,Mathilde Renaud,Celine Bonnet

Clinical Genetics（2022）

Cited 1|Views41
Key words
founder effect,spastic paraplegia,SPG50
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