Accès ouvert
2026
conference-abstract
OpenAlex
Phoenix Wang, Scott Ward, Xinxiu Xu, Rebecca Smith et autres
The patient underwent pulmonary valvuloplasty at 5 days of life but required PDA stent placement after failed prostaglandin E weaning attempts. She developed atrial tachycardia, managed with procainamide and later amiodarone. She was found to have a nonocclusive inferior vena cava thrombus …
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Accès ouvert
2026
conference-abstract
OpenAlex
Phoenix Wang, Xinxiu Xu, Suné van Wyk, Yutaka Furuta et autres
Disorders of sex development (DSDs) encompass conditions marked by discordance among chromosomal, gonadal, and phenotypic sex. In 46,XX individuals with male phenotypes (46,XX DSD), approximately 80% are due to translocation of the SRY gene, typically to the X chromosome. SRY-negative cases may …
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(code pays fourni par la source)
Accès ouvert
2026
conference-abstract
OpenAlex
Ayaka Sugiura, Phoenix Wang, Bryce Schuler, Karee Morgan et autres
hypothesize that either single LOF variants may be sufficient to cause reduced penetrance disease, or that in trans hypomorphic alleles may be filtered out of variant prioritization due to their prevalence in population databases.Conclusion: While we suspect autosomal dominant AGS in this …
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(code pays fourni par la source)