Maria Carla Borroto

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Active since

2024

Affiliations

Biologie, Génétique et Thérapies ostéoArticulaires et Respiratoires(Current)

Maria Carla Borroto is an author at Biologie, Génétique et Thérapies ostéoArticulaires et Respiratoires specializing in developmental disorders, neurogenetics, and mendelian neurological disorders.

ORCID

Publications per year

2024–2024

Publications

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas et al. · The American Journal of Human Genetics · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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