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Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.
Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
Rare X;13 translocation with NR0B1 duplication in partial gonadal dysgenesis: A novel karyotype in DSD cases.