AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development

BACKGROUND: Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Causative mutations have not been identified in more than 50% 46,XY DSD cases. We aimed to identify chromosomal rearrangement in the develop...

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Publicat a:Ann Transl Med
Autors principals: Vu, Dung Chi, Nguyen, Khanh Ngoc, Can, Ngoc Bich, Bui, Thao Phuong, Fukami, Maki
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2017
Matèries:
Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641810/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s020
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