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17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with...
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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4633651/ https://ncbi.nlm.nih.gov/pubmed/26543560 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0069 |
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