Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

• Main Authors: Qi Yang (Author), Di Gong (Author), Shang Yi (Author), Jingsi Luo (Author), Qinle Zhang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a heterozygous deletion on chromosome 4p16.3, which is called the WHS critical region (WHSC). The major features of this disorder, including "Greek warrior helmet" facies, delayed growth, intellectual disability, seizures,...