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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Vydáno v:Clin Endocrinol (Oxf)
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup: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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