Work

Identification of A Novel Mutation of SHORT Syndrome: A Case Report

Year: 2025

Type: article

Abstract: ABSTRACT SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 mutations. The genotype–phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and characterization worldwide.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.70820

Authors: Quynh Thi Vu Huynh, Tuong Trong Luong, Ho Tran Ban, Van Tran

Institutions: University of Medicine and Pharmacy at Ho Chi Minh City, Children's Hospital 2

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820