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Marisa Piccirillo

Sapienza University of Rome

Piazzale Aldo Moro 5

Roma, 00185

Italy

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Scholarly Papers (1)

1.

Cyclical Vomiting Syndrome in Individuals with Bptf-Haploinsufficiency

Number of pages: 52 Posted: 21 Feb 2025
Sapienza University of Rome, Sapienza University of Rome, affiliation not provided to SSRN, Danish Epilepsy Centre, Charité - Universitätsmedizin Berlin, Erasmus University Rotterdam (EUR), Charité - Universitätsmedizin Berlin, Erasmus University Rotterdam (EUR) - Department of Clinical Genetics, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Sapienza University of Rome, Sapienza University of Rome, Sapienza University of Rome, affiliation not provided to SSRN, Sapienza University of Rome, University of Rome I - NESMOS Department, Danish Epilepsy Centre, affiliation not provided to SSRN, affiliation not provided to SSRN and affiliation not provided to SSRN
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Abstract:

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bromodomain PHD finger transcription factor gene, BPTF, cyclical vomiting syndrome, neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, NEDDFL