SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys

Chin Med J (Engl). 2021 Nov 10;135(4):477-479. doi: 10.1097/CM9.0000000000001805.

Authors

Yi Wang^{1

2}, Lijun Fan^{1

2}, Xiaoya Ren^{1

2}, Yanning Song^{1

2}, Beibei Zhang^{1

2}, Chunxiu Gong^{1

2}

Affiliations

¹ Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
² National Medical Center for Children's Health, Beijing 100045, China.

No abstract available

MeSH terms

Heterozygote
Humans
Male
Mutation / genetics
Phenotype
SOXB1 Transcription Factors* / genetics

Substances

SOX2 protein, human
SOXB1 Transcription Factors