[en] Tatton-Brown-Rahman syndrome (TBRS) is a newly defined genetic entity characterized by overgrowth and intellectual disability, resulting from germline mutations in the gene encoding DNA methyltransferase 3 alpha (DNMT3A). Affected individuals with benign and malignant tumors have been reported; to our knowledge pituitary adenomas (and other tumors identified in our patient) have not yet been described in this syndrome.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Hage, Camille; Johns Hopkins University School of Medicine
Sabini, Elena; Johns Hopkins University School of Medicine
Alsharhan, Hind; Children’s Hospital of Philadelphia
Fahrner, Jill Ann; Johns Hopkins University School of Medicine
Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Salvatori, Roberto; Johns Hopkins University School of Medicine
Language :
English
Title :
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome
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