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HESX1 Mutations in Patients with Congenital Hypopituitarism: Variable Phenotypes with the Same Genotype
INTRODUCTION: Mutations in the transcription factor HESX1 can cause Isolated Growth Hormone Deficiency (IGHD) or Combined Pituitary Hormone Deficiency (CPHD) with or without Septo-Optic Dysplasia (SOD). So far there is no clear genotype-phenotype correlation. PATIENTS AND RESULTS: We report four dif...
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| 發表在: | Clin Endocrinol (Oxf) |
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| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4988903/ https://ncbi.nlm.nih.gov/pubmed/27000987 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cen.13067 |
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