Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

Background The identification of causative mutations is important for treatment decisions
and genetic counseling of patients with disorders of sex development (DSD). Here, we …

Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E.
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for …

Disorders of sex development (DSDs) are a diverse group of conditions where the
chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature …

Disorders of sex development (DSD) vary phenotypically and are caused by a number of
genetic etiologies. This study investigated the genetic etiology of DSD patients using …

Context: Disorders of sex development (DSD) are clinical conditions where there is a
discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of …

Disorders of sex development (DSDs) are congenital conditions in which the external
appearance of the individual does not coincide with the chromosomal constitution or the …

Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Highlights•Sex development depends on spatio-temporal sequence & coordination of
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …