PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review

Autor:	Ocampo-Chih, Claudia, Dennis, Hailey, Lall, Neil, Pham, Nga, Liang, Bo, Verma, Sumit, Neira Fresneda, Juanita
Zdroj:	In Pediatric Neurology February 2023 139:59-64
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect