Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study
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Published:2024-01
Issue:1
Volume:26
Page:100987
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Stochholm Kirstine,
Holmgård Camilla,
Davis Shanlee M.,
Gravholt Claus H.,
Berglund AgnetheORCID
Subject
Genetics (clinical)
Reference30 articles.
1. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss;Hook;Hum Genet,2014
2. LWPES Consensus Group, ESPE Consensus Group. Consensus statement on management of intersex disorders;Hughes;Arch Dis Child,2006
3. Clinical and gonadal features and early surgical management of 45, X/46/47;Farrugia;J Pediatr Urol,2013
4. Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype;Guzewicz;Am J Med Genet A,2021
5. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function—A retrospective longitudinal study;Lindhardt Johansen;J Clin Endocrinol Metab,2012
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