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MON-060 P-450 Oxidoreductase Deficiency with Antley Bixler Phenotype: A Novel Mutation
Introduction We present first case of 46 XY Disorder of Sex Development (DSD) from India due to P-450 Oxidoreductase Deficiency with Novel variant (p.Ala541Thr) in a heterozygous state. Case Discussion 6 months old boy presented with ambiguous genitalia since birth. No history of neonatal crisis, fa...
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| Publicado no: | J Endocr Soc |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7208265/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.429 |
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