Non-syndromic Congenital Sodium Diarrhea: A Novel Mutation in the SLC9A3 Gene

被引:0
|
作者
Hosnut, Ferda Ozbay
Sahin, Gulseren [1 ]
Uyanik, Bulent [2 ]
Ceylaner, Serdar
Akcaboy, Meltem [3 ]
机构
[1] SBU Ankara Dr Sami Ulus Matern Child Hlth & Dis Tr, Pediat Gastroenterol, Ankara, Turkiye
[2] Bezmialem Vakif Univ, Fac Med, Dept Internal Med, Div Med Genet, Istanbul, Turkiye
[3] Dr Sami Ulus Matern & Childrens Hlth & Dis Trainin, Pediat, Ankara, Turkiye
来源
KLINISCHE PADIATRIE | 2025年 / 237卷 / 01期
关键词
D O I
10.1055/a-2346-9589
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:37 / 38
页数:2
相关论文
共 50 条
  • [1] Congenital Sodium Diarrhea by mutation of the SLC9A3 gene
    Dimitrov, Georges
    Bamberger, Sarah
    Navard, Chloe
    Dreux, Sophie
    Badens, Catherine
    Bourgeois, Patrice
    Buffat, Christophe
    Hugot, Jean-Pierre
    Fabre, Alexandre
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (10)
  • [2] Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene
    Bhardwaj, Swati
    Pandit, Deepti
    Sinha, Aditi
    Hari, Pankaj
    Cheong, Hae Il
    Bagga, Arvind
    INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (08): : 859 - 861
  • [3] Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene
    Swati Bhardwaj
    Deepti Pandit
    Aditi Sinha
    Pankaj Hari
    Hae Il Cheong
    Arvind Bagga
    The Indian Journal of Pediatrics, 2016, 83 : 859 - 861
  • [4] Non-syndromic Oligodontia with a Novel Mutation of PAX9
    Suda, N.
    Ogawa, T.
    Kojima, T.
    Saito, C.
    Moriyama, K.
    JOURNAL OF DENTAL RESEARCH, 2011, 90 (03) : 382 - 386
  • [5] A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia
    Khera, Sanjeev
    Pramanik, S. K.
    Patnaik, S. K.
    INDIAN PEDIATRICS, 2020, 57 (06) : 574 - 575
  • [6] A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia
    Sanjeev Khera
    S. K. Pramanik
    S. K. Patnaik
    Indian Pediatrics, 2020, 57 (6) : 574 - 575
  • [7] Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis
    Mastouri, Marwa Haddaji
    De Coster, Peter
    Zaghabani, Aicha
    Trabelsi, Saoussen
    May, Yosra
    Saad, Ali
    Coucke, Paul
    Ben Brahim, Dorra H'mida
    ARCHIVES OF ORAL BIOLOGY, 2016, 71 : 110 - 116
  • [8] Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia
    Yuhua Pan
    Sheng Yi
    Dong Chen
    Xinya Du
    Xinchen Yao
    Fei He
    Fu Xiong
    Clinical Oral Investigations, 2022, 26 : 5171 - 5179
  • [9] Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia
    Pan, Yuhua
    Yi, Sheng
    Chen, Dong
    Du, Xinya
    Yao, Xinchen
    He, Fei
    Xiong, Fu
    CLINICAL ORAL INVESTIGATIONS, 2022, 26 (08) : 5171 - 5179
  • [10] A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea
    Xian-Xu Zhang
    Xi Chen
    Wei Zhou
    Vasilis Caesar Mavratsas
    Yang-Yang Xiao
    Xin-Rui Tan
    Song-Jia Zheng
    Xing-Xing Zhang
    World Journal of Pediatrics, 2022, 18 : 861 - 865