Associated Papers
CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.
Kamimura M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys.
Wang Y et al.
Chinese Medical Journal, 2021
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