AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

Acta Paediatr. 2019 Mar;108(3):564-565. doi: 10.1111/apa.14633. Epub 2018 Nov 27.

Gerarda Cappuccio^{1

2}, Annalaura Torella^{2

3}, Mario Mastrangelo⁴, Claudia Carducci⁵, Vincenzo Nigro^{2

3}; TUDP; Nicola Brunetti-Pierri^{1

2}, Vincenzo Leuzzi⁴

¹ Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
² Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
³ Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
⁴ Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.
⁵ Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

No abstract available

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