Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

AIM: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of hypopituitarism poses difficulties to select the or...

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Bibliografski detalji
Izdano u:Endocr Connect
Glavni autori: Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
Format: Artigo
Jezik:Inglês
Izdano: Bioscientifica Ltd 2019
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6510710/
https://ncbi.nlm.nih.gov/pubmed/30959475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-19-0085
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