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Distinct autism spectrum disorder phenotype and hand-flapping stereotypes: Two siblings with novel homozygous mutation in TRAPPC9 gene and literature review
Bolat, Hilmi; Bolat, Gül Ünsel; Derin, Hatice; Şen, Aşkın; Ceylaner, Serdar (Karger, 2022)Objective: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic ...