Article

SOX2 heterozygous mutation causes multiple extra-ocular phenotypes in boys

2020-05-09

Abstract excerpt

<h4>Background: </h4> The SOX2 gene is widely expressed in the eyes and the central nervous system. Heterozygous mutations could cause eye malformations and hypopituitarism, and serve as the causative gene for syndromic and non-syndromic hypogonadotropic hypogonadism (HH). Our study reports three children with chromosome 46, XY, SRY (+), but SOX2 mutations. <h4>Methods: </h4> Three children visited our endocrine c...

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Literature Corpus work: e9d8f34b-0b81-5c6a-92cd-95a4878655f7
DOI: 10.21203/rs.3.rs-22368/v1

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