Uma Visser

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Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us(More)
, is a rare disease with a severe clinical phenotype [1,2] and generally no improvement with age [3]. It results from mutations in the amiloride-sensitive epithelial sodium channel causing mineralocor-ticoid-resistant (ENaC), systemic salt wasting, and is lethal without ongoing supra-physiological sodium sup-plementation and management of hyperkalaemia(More)
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