載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:Clin Endocrinol (Oxf)
Main Authors: Fang, Qing, Figueredo Benedetti, Anna Flavia, Ma, Qianyi, Gregory, Louise, Li, Jun Z., Dattani, Mehul, Sadeghi-Nejad, Abdollah, Arnhold, Ivo J.P., de Mendonça, Berenice Bilharinho, Camper, Sally A., Carvalho, Luciani R.
格式: Artigo
語言:Inglês
出版: 2016
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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!