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Paper Details

Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion.
Front Endocrinol (Lausanne)
2
2023
Arg703Gln, Asp563Gly, C, Germline loss, Gly552Arg, His778fs, PAM, PAs, Phe759Ser, Pituitary adenomas, SNVs, Ser539Trp, c, cell, familial isolated PA, germline, germline DNA, growth hormone, growth hormone excess, minigene, pediatric Cushing disease, peptidylglycine, peptidylglycine a-amidating monooxygenase, peptidylglycine a-amidating monooxygenase (PAM) gene, pituitary gigantism, pituitary gland hyperfunction, pituitary hypersecretion, secreted peptides, tumor, tumors of the anterior pituitary gland
Author NameAffiliation
Camilo ToroNational Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
William A GahlNational Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
William A GahlNational Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
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