Associated Papers
Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.
Zhang N et al.
Frontiers in Endocrinology, 2025
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
Choi JH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P et al.
Fertility and Sterility, 2010
Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.
Carn G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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