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Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46 ...
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Psychopathology in mothers of children with pathogenic Copy Number Variants

Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...
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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives

Correspondence to Dr Ricardo Rodriguez-Calvo and Professor Luis Masana, Vascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, ‘Sant Joan’ University Hospital, Universitat ...
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PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant

Background Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.