A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency

A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency

Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary in size and typically encompass...

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Bibliographic Details
Main Authors: Ting Wen, Brian J. Shayota, Lauren Wallace, Coumarane Mani, Neal Davis, Jian Zhao
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/crig/1912620
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