Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

• Main Authors: Bin Zhang (Author), Rui He (Author), Riga Wu (Author), Zhou Yang (Author), Man Hu (Author), Nan Zhang (Author), Wu Guo (Author), Zigang Xu (Author), Lin Ma (Author)
• Format: Book
• Published: Wiley, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ABSTRACT Importance Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population. Objective To identify pathogeni...