Deep Phenotyping in 1p36 Deletion Syndrome

• Main Authors: Youngkyu Shim (Author), Young Jun Go (Author), Soo Yeon Kim (Author), Hunmin Kim (Author), Hee Hwang (Author), Jieun Choi (Author), Byung Chan Lim (Author), Ki Joong Kim (Author), Jong-Hee Chae (Author)
• Format: Book
• Published: Korean Child Neurology Society, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to characterize the phenotype-genotype correlation. Methods We retrospectively reviewed 15 patien...