AP 1S2 ‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency-Reference-Cited by-同舟云学术

AP 1S2 ‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

Author:

Cappuccio Gerarda¹²^ORCID,Torella Annalaura²³,Mastrangelo Mario⁴,Carducci Claudia⁵,Nigro Vincenzo²³,Brunetti‐Pierri Nicola¹²,Leuzzi Vincenzo⁴,

Affiliation:

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

Funder

Fondazione Telethon

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Link

Reference5 articles.

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