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MTSS2-Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

Angela De Dominicis,Francesca Piceci Sparascio,Fabrizia Stregapede,Alessandra Terracciano,Daniela Verrigni,Francesca Romana Lepri, Sarah Cetola,Maria Lisa Dentici,Federico Vigevano,Antonio Novelli,Nicola Specchio,Marina Trivisano,Maria Cristina Digilio

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2025）

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Key words
MTSS2,neurodevelopmental disorders,phenotype-driven NGS strategy
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