Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

被引：0
|
作者：
Christoph Welsch
Anna Katharina Flügel
Susanne Rondot
Egbert Schulze
Ishani Sircar
Judith Nußbaumer
Jörg Bojunga
机构：
[1] Goethe-University Hospital Frankfurt,Department of Internal Medicine 1
[2] MVZ Labor Dr. Limbach & Kollegen GbR,undefined
[3] endokrinologikum Frankfurt,undefined
来源：
BMC Endocrine Disorders | / 22卷
关键词：
Case report; MEN1; Truncating mutation; Frameshift; Clinical phenotype;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance
    Matsubayashi, Hiroyuki
    Kiyozumi, Yoshimi
    Harada, Rina
    Mukaigawa, Takashi
    Sugiura, Teichi
    Ishiwatari, Hirotoshi
    Sato, Junya
    Niiya, Fumitaka
    Nakashima, Kazuaki
    Kado, Nobuhiro
    Nishimura, Seiichiro
    Honda, Goichi
    Ohike, Nobuyuki
    INTERNAL MEDICINE, 2024, 63 (08) : 1119 - 1123
  • [22] Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
    Griniatsos, John E.
    Dimitriou, Nikoletta
    Zilos, Athanassios
    Sakellariou, Stratigoula
    Evangelou, Konstantinos
    Kamakari, Smaragda
    Korkolopoulou, Penelope
    Kaltsas, Gregory
    WORLD JOURNAL OF SURGICAL ONCOLOGY, 2011, 9
  • [23] Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
    John E Griniatsos
    Nikoletta Dimitriou
    Athanassios Zilos
    Stratigoula Sakellariou
    Konstantinos Evangelou
    Smaragda Kamakari
    Penelope Korkolopoulou
    Gregory Kaltsas
    World Journal of Surgical Oncology, 9
  • [24] A new mutation in the MEN1 gene
    Franchi, Giulia M.
    Villa, Valentina V.
    Carrera, Paola
    Sartorio, Samantha Menghi
    Maffi, Paola
    Bosi, Emanuele
    Manzoni, Marco F.
    CANCER GENETICS AND CYTOGENETICS, 2009, 192 (02) : 99 - 101
  • [25] A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype
    Raef, Hussein
    Zou, Minjing
    Baitei, Essa Y.
    Al-Rijjal, Roua A.
    Kaya, Namik
    Al-Hamed, Mohamed
    Monies, Dorota
    Abu-Dheim, Nada N.
    Al-Hindi, Hindi
    Al-Ghamdi, Mohammed H.
    Meyer, Brian F.
    Shi, Yufei
    CLINICAL ENDOCRINOLOGY, 2011, 75 (06) : 791 - 800
  • [26] A novel germline mutation of multiple endocrine neoplasia type 1 (MEN1) gene in a Japanese MEN1 patient and her daughter
    Ohye, H
    Sato, M
    Matsubara, S
    Miyauchi, A
    Kishi-Imai, K
    Murao, K
    Takahara, J
    ENDOCRINE JOURNAL, 1999, 46 (02) : 325 - 329
  • [27] MEN1 Clinical Background
    Igaz, Peter
    SUPERMEN1: PITUITARY, PARATHYROID AND PANCREAS, 2009, 668 : 1 - 15
  • [28] Long-term follow-up and novel splice donor mutation in MEN1 in a Chinese family
    Li, Minghao
    Liu, Qianqian
    Liu, Peihua
    Yi, Xiaoping
    Guan, Xiao
    Yu, Anze
    Liu, Longfei
    Zhu, Feizhou
    ONCOTARGET, 2018, 9 (02) : 1577 - 1586
  • [29] A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy
    Margoni, M.
    Soli, F.
    Sangalli, A.
    Bellizzi, M.
    Cecchini, E.
    Buganza, M.
    JOURNAL OF CLINICAL NEUROSCIENCE, 2017, 43 : 175 - 177
  • [30] Mutation Analysis of the MEN1 Gene in Israeli Patients with MEN1 and Familial Isolated Hyperprolactinemia
    Jakobovitz-Picard, Orit
    Olchovsky, David
    Berezin, Meir
    Ghodsizade, Azizela
    Zahavi, Zvi
    Karasik, Avraham
    Rechavi, Gideon
    Friedman, Eitan
    HUMAN MUTATION, 2000, 16 (03)
12345