Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

BACKGROUND: 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. METHODOLOGY/PRINCIPAL FINDINGS: To clarify the role of cryptic rearrangements in the dev...

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Autors principals: Igarashi, Maki, Dung, Vu Chi, Suzuki, Erina, Ida, Shinobu, Nakacho, Mariko, Nakabayashi, Kazuhiko, Mizuno, Kentaro, Hayashi, Yutaro, Kohri, Kenjiro, Kojima, Yoshiyuki, Ogata, Tsutomu, Fukami, Maki
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3704668/
https://ncbi.nlm.nih.gov/pubmed/23861871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0068194
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