MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review.
Duoduo ZhangQinjie TianPublished in: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology (2024)
mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.