文献
J-GLOBAL ID:202202289404889235
整理番号:22A1025125
症例報告:原発性両側性大結節性副腎過形成および低ガンマグロブリン血症患者における新規ARMC5生殖系列突然変異【JST・京大機械翻訳】
Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia
著者 (14件):
Vena Walter
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Vena Walter
(2Unit of Endocrinology, Diabetology and Medical Andrology, IRCCS, Humanitas Clinical Research Hospital;Milan, Italy)
,
Morelli Valentina
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Carrabba Maria
(3Department of Internal Medicine, Rare Diseases Unit, Primary Immunodeficiencies Centre for Adults, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Elli Francesca
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Fabio Giovanna
(3Department of Internal Medicine, Rare Diseases Unit, Primary Immunodeficiencies Centre for Adults, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Muller Ilaria
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Lucca Camilla
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Maffini Maria Antonia
(4Department of Clinical Sciences and Community Health University of Milan, Milan, Italy)
,
Lania Andrea Gerardo
(2Unit of Endocrinology, Diabetology and Medical Andrology, IRCCS, Humanitas Clinical Research Hospital;Milan, Italy)
,
Mantovani Giovanna
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Mantovani Giovanna
(4Department of Clinical Sciences and Community Health University of Milan, Milan, Italy)
,
Arosio Maura
(1Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Arosio Maura
(4Department of Clinical Sciences and Community Health University of Milan, Milan, Italy)
資料名:
Frontiers in Genetics (Web)
(Frontiers in Genetics (Web))
巻:
13
ページ:
834067
発行年:
2022年
JST資料番号:
U7071A
ISSN:
1664-8021
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
スイス (CHE)
言語:
英語 (EN)