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POU1F1基因变异导致联合垂体激素缺乏症Ⅰ型1例的临床和遗传学特点
This paper reports the clinical and genetic characteristics of a case of combined pituitary hormone deficiency type Ⅰ (CPHD1) caused by POU domain, class 1, transcription factor 1 (POU1F1) gene variation. A 2 years and 3 months old girl mainly presented with short stature, special facial features of...
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| Izdano u: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
中国当代儿科杂志编辑部
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389113/ https://ncbi.nlm.nih.gov/pubmed/31315769 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.07.013 |
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