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Clinical Phenotype and Management of Individuals with Mosaic Monosomy X with Y Chromosome Material Stratified by Genital Phenotype

Individuals mosaic for monosomy X and a cell line with Y chromosome material can have genitalia that appear phenotypical female, male or ambiguous. Those with this karyotype and typical female genitalia are diagnosed with Turner syndrome, however this definition specifically excludes those with geni...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Guzewicz, Lindsey, Howell, Susan, Crerand, Canice E., Umbaugh, Hailey, Nokoff, Natalie J, Barker, Jennifer, Davis, Shanlee M
Formato: Artigo
Idioma:Inglês
Publicado em: 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259779/
https://ncbi.nlm.nih.gov/pubmed/33616298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62127
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