Como uma das nossas famílias com deficiência de GH e idade óssea avançada, homozigota para variantes patogênicas no receptor de #GHRH e #CPY21A2 causando DGH e #hiperplasia #adrenal congênita. https://t.co/RTb5cI71Bc
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GHRHP https://t.co/j4rrhRVOeo and CYP21A2 #mutations in patient with two recessive #endocrine #diseases: congenital #adrenal #hyperplasia and classical growth #hormone #deficiency phenotype https://t.co/6rpHSYWLmB
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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. https://t.co/L6ROB7iqfZ