Targeting the non-coding genome for the diagnosis of disorders of sex development

G Atlas, R Sreenivasan, A Sinclair - Sexual Development, 2021 - karger.com
Disorders of sex development (DSD) are a complex group of conditions with highly variable
clinical phenotypes, most often caused by failure of gonadal development. DSD are …

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

SA Sajan, CM Brown, L Davis‐Keppen… - American Journal of …, 2023 - Wiley Online Library
Copy number variants that duplicate distal upstream enhancer elements of the SOX9 gene
cause 46, XX testicular differences of sex development (DSD) which is characterized by a …

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

A Lengyel, É Pinti, H Pikó, Á Kristóf, T Abonyi… - Molecular …, 2022 - Springer
Background Neurodevelopmental disorders are genetically heterogeneous pediatric
conditions. The first tier diagnostic method for uncovering copy number variations (CNVs) …

The genetics of ovotesticular differences of sex development

E Vilain - Genetic Steroid Disorders, 2023 - Elsevier
Ovotesticular disorders/differences of sex developments (OT-DSDs) are disorders of sex
development in which both testicular and ovarian tissues are present in the same individual …

[PDF][PDF] A pontos genetikai diagnózis jelentősége az 1-es típusú neurofibromatózisban és a nemi fejlődési zavarokban

É Pinti - 2023 - repo.lib.semmelweis.hu
A pontos genetikai diagnózis jelentősége az 1-es típusú neurofibromatózisban és a nemi fejlődési
zavarokban Page 1 A pontos genetikai diagnózis jelentősége az 1-es típusú …

[PDF][PDF] Clinical Significance of Rare Copy Number Variations in Neurodevelopmental Disorders

A Lengyel - 2023 - repo.lib.semmelweis.hu
Neurodevelopmental disorders (NDDs) are chronic medical conditions characterized by
deficits in one or more developmental domains due to altered neural development. NDDs …