Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
(1/31)
(+info )High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia.
(2/31)
(+info )Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
(3/31)
(+info )Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.
(4/31)
(+info )The aetiology behind torticollis and variable spine defects in patients with Mullerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.
(5/31)
(+info )A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.
(6/31)
(+info )Etiological classification and clinical assessment of children and adolescents with disorders of sex development.
(7/31)
(+info )Evaluation of SHOX copy number variations in patients with Mullerian aplasia.
(8/31)
(+info )