Heterozygous ZNHIT3 Variants Within the 17q12 Recurrent Deletion Region Are Associated with Mayer-Rokitansky-Kuster Hauser (MRKH) Syndrome
MOLECULAR AND CELLULAR ENDOCRINOLOGY（2024）
关键词
Mayer-Rokitansky-Kuster Hauser,ZNHIT3,Pathogenic variants,Next generation sequencing,Mullerian aplasia,Nonsense-mediated mRNA decay
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