Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case report.

Abstract excerpt

BACKGROUND: Protein tyrosine phosphatase, non-receptor type 4 (PTPN4) is a gene involved in glutamate downstream signaling contributing to cerebral maturation. Loss-of-function of this gene has been reported in patients showing various neurodevelopmental disorders, although the PTPN4 gene is not clearly considered a disease-causing gene in the Online Mendelian Inheritance in Man catalogue. CASE PRESENTATION:...

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