GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
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PMID: 29882329 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Hengel H, Keimer R, Deigendesch W, Rieß A, Marzouqa H, Zaidan J, Bauer P, Schöls L Tags: Clin Genet Source Type: research