A large family with short stature and genu varum: expanding the phenotype associated with ACAN variants

被引：0
|
作者：
Travessa, Andre [1 ]
Dias, Patricia [1 ]
Campos-Xavier, Belinda [2 ,3 ]
Ferreira, Catarina [2 ,3 ]
Superti-Furga, Andrea [2 ,3 ]
Sousa, Ana Berta [1 ]
机构：
[1] Ctr Hosp Univ Lisboa Norte, Dept Pediat, Serv Genet Med, Lisbon, Portugal
[2] Lausanne Univ Hosp, Div Genet Med, Lausanne, Switzerland
[3] Univ Lausanne, Lausanne, Switzerland
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP05.042
引用
收藏
页码：134 / 134
页数：1
相关论文
共 50 条
  • [1] ACAN biallelic variants in a girl with severe idiopathic short stature
    Yohei Masunaga
    Yumiko Ohkubo
    Gen Nishimura
    Taizo Ueno
    Yasuko Fujisawa
    Maki Fukami
    Hirotomo Saitsu
    Tsutomu Ogata
    Journal of Human Genetics, 2022, 67 : 481 - 486
  • [2] ACAN biallelic variants in a girl with severe idiopathic short stature
    Masunaga, Yohei
    Ohkubo, Yumiko
    Nishimura, Gen
    Ueno, Taizo
    Fujisawa, Yasuko
    Fukami, Maki
    Saitsu, Hirotomo
    Ogata, Tsutomu
    JOURNAL OF HUMAN GENETICS, 2022, 67 (08) : 481 - 486
  • [3] GENU-VALGUM ASSOCIATED WITH SHORT STATURE
    JOHNSTON, CE
    ORTHOPEDICS, 1987, 10 (02) : 370 - 376
  • [4] Clinical and Genetic Analysis of Ten Short Stature Patients with ACAN Variants
    Cai Binbin
    Chen Hong
    Chen Ruimin
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 325 - 325
  • [5] Novel ACAN Variants in Eight Chinese Families with Short Stature and Literature Review
    Deng, Shuyun
    Hou, Lele
    Xia, Dan
    Li, Xiaojuan
    Ouyang, Nengtai
    Liang, Liyang
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 157 - 158
  • [6] Novel pathogenic ACAN variants in non-syndromic short stature patients
    Hu, Xuyun
    Gui, Baoheng
    Su, Jiasun
    Li, Hongdou
    Li, Niu
    Yu, Tingting
    Zhang, Qinle
    Xu, Yufei
    Li, Guoqiang
    Chen, Yulin
    Qing, Yanrong
    Li, Chuan
    Luo, Jingsi
    Fan, Xin
    Ding, Yu
    Li, Juan
    Wang, Jian
    Wang, Xiumin
    Chen, Shaoke
    Shen, Yiping
    CLINICA CHIMICA ACTA, 2017, 469 : 126 - 129
  • [7] Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature
    Wu, Huiping
    Wang, Chaoban
    Yu, Shiwen
    Ye, Xiaojun
    Jiang, Yalan
    He, Pingping
    Shan, Xiaoou
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2023, 37 (02)
  • [8] Novel Familial ACAN Gene Mutation in a Short Stature Family of an SGA Proband
    Kraus, J.
    Dauber, A.
    Hwa, V
    Tyzinski, L.
    Fujimoto, M.
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 92 : 16 - 16
  • [9] Short stature with genu varum in twins are clues for a genetic disorder X-linked hypophosphatemic rickets case report
    Julia, Bokias
    Marion, Koller
    Ambrel, Mathez
    Fabien, Claude
    Alexandra, Goischke
    Ali, Zoubir Sid
    SWISS MEDICAL WEEKLY, 2024, 154 : 30S - 30S
  • [10] High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
    Stavber, L.
    Hovnik, T.
    Kotnik, P.
    Lovrecic, L.
    Kovac, J.
    Tesovnik, T.
    Bertok, S.
    Dovc, K.
    Debeljak, M.
    Battelino, T.
    Stefanija, M. Avbelj
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2020, 182 (03) : 243 - 253
12345