Genetic Insights into Autosomal Dominant Osteopetrosis: A Case Report of a Missense Variant in the TCIRG1 Gene

被引：0
|
作者：
Sargiotto, C. [1 ]
Russell, B. R. [1 ]
Krakow, D. [1 ,2 ]
机构：
[1] Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA
[2] Univ Calif Los Angeles, Obstet & Gynecol, Los Angeles, CA USA
来源：
JOURNAL OF INVESTIGATIVE MEDICINE | 2025年 / 73卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
537
引用
收藏
页码：613 / 614
页数：2
相关论文
共 50 条
  • [1] Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene
    Jodeh, Wade
    Katz, Amy J.
    Hart, Marian
    Warden, Stuart J.
    Niziolek, Paul
    Alam, Imranul
    Ing, Steven
    Polgreen, Lynda E.
    Imel, Erik A.
    Econs, Michael J.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024, 109 (07): : 1726 - 1732
  • [2] Siblings with Autosomal Dominant Osteopetrosis (ADO) Caused by a Single Allele Missense Variant in TCIRG1 Gene
    Katz, Amy
    Hart, Marian
    Warden, Stuart
    Niziolek, Paul
    Polgreen, Lynda
    Imel, Erik
    Econs, Michael
    JOURNAL OF BONE AND MINERAL RESEARCH, 2023, 38 : 286 - 286
  • [3] A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation
    Wada, Keiko
    Harada, Daisuke
    Michigami, Toshimi
    Tachikawa, Kanako
    Nakano, Yukako
    Kashiwagi, Hiroko
    Yamashita, Sumie
    Sano, Tetsuya
    Seino, Yoshiki
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2013, 26 (5-6): : 575 - 577
  • [4] Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene
    Chavez-Guitron, Luis E.
    Ceron-Torres, Tadeo
    Sobacchi, Cristina
    Ochoa-Ruiz, Echael
    Villegas-Huesca, Sugey
    BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO, 2018, 75 (04): : 255 - 259
  • [5] Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
    Pangrazio, A.
    Caldana, M. E.
    Iacono, N. L.
    Mantero, S.
    Vezzoni, P.
    Villa, A.
    Sobacchi, C.
    OSTEOPOROSIS INTERNATIONAL, 2012, 23 (11) : 2713 - 2718
  • [6] Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
    A. Pangrazio
    M. E. Caldana
    N. L. Iacono
    S. Mantero
    P. Vezzoni
    A. Villa
    C. Sobacchi
    Osteoporosis International, 2012, 23 : 2713 - 2718
  • [7] Erratum to: Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
    A. Pangrazio
    M. E. Caldana
    N. Lo Iacono
    S. Mantero
    P. Vezzoni
    A. Villa
    C. Sobacchi
    Osteoporosis International, 2012, 23 (11) : 2719 - 2719
  • [8] A novel mutation in TCIRG1 gene in a Turkish patient with malignant autosomal recessive osteopetrosis
    Kocak, G.
    Nur, B.
    Mihci, E.
    Akkurt, H.
    Manguoglu, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 246 - 246
  • [9] Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation
    Bruder, E
    Stallmach, T
    Peier, K
    Superti-Furga, A
    Vezzoni, P
    PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE, 2003, 22 (01): : 3 - 9
  • [10] TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis
    Kocak, Gamze
    Guzel, Banu Nur
    Mihci, Ercan
    Kupesiz, Osman Alphan
    Yalcin, Koray
    Manguoglu, Aye Esra
    GENE, 2019, 702 : 83 - 88
12345