Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-d...

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Detalles Bibliográficos
Autores principales: Correa, Fernanda A., França, Marcela M., Fang, Qing, Ma, Qianyi, Bachega, Tania A., Rodrigues, Andresa, Ozel, Bilge A., Li, Jun Z., Mendonca, Berenice B., Jorge, Alexander A. L., Carvalho, Luciani R., Camper, Sally A., Arnhold, Ivo J. P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806044/
https://www.ncbi.nlm.nih.gov/pubmed/29412390
http://dx.doi.org/10.1590/2359-3997000000311

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