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A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental

Lan Zeng1, Jing Nie2, Shuyao Zhu3

  • 1Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Woman's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.

Molecular Syndromology
|June 5, 2025
PubMed
Abstract

Keywords:
De novo variantHECW2HypotoniaNeurodevelopmental delayWhole exome sequencing

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