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Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

Author:

Valentina Serpieri,Myriam Vezain-Mouchard,Alessia Orsi,Maryline Lecointre,Concetta Mazzotta,Florent Marguet,Anna Garbelli,Pascale Marcorelles,Ludovica Celli,Alice Goldenberg,Roberta De Mori,Nathalie Drouot,Francesco Petrizzelli,François Janin et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

5 March 2026

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