Open AccessOR15-3 Extreme Phenotypic Variability of a Novel Mutation of MEN1 Gene in a Family with 14 Carriers across 3 Generations
Author(s) -
Carolina Chaves,
Mariana M Chaves,
Bernardo Dias Pereira,
David A. Schwartz,
Ana Saramago,
Valeriano Leite,
Branca Cavaco,
João Anselmo,
Rui César
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-or15-3
Subject(s) - men1 , mutation , multiple endocrine neoplasia , genetics , gene duplication , biology , gene mutation , primary hyperparathyroidism , exon , gene , endocrinology