Associated Papers
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Hengel H et al.
Clinical Genetics, 2018
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H et al.
American Journal of Medical Genetics. Part A, 2018
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