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）
关键词
founder effect, spastic paraplegia, SPG50
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