Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Publication date: Available online 20 November 2020Source: NeuronAuthor(s): Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick Gaffney, Klaas J. Wierenga, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Lynn S. Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa
Source: Neuron - Category: Neuroscience Source Type: research