Early Prenatal Detection of Recessive Split-hand/Foot Malformation Caused by a Homozygous Variant of WNT10B

被引：0
|
作者：
Chen, Gui-Lan [1 ]
Zhen, Li [1 ]
Li, Dong-Zhi [1 ]
机构：
[1] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China
来源：
JOURNAL OF MEDICAL ULTRASOUND | 2024年 / 32卷 / 03期
关键词：
FOOT MALFORMATION;
D O I：
10.4103/jmu.jmu_147_23
中图分类号：
R8 [特种医学]; R445 [影像诊断学];
学科分类号：
1002 ; 100207 ; 1009 ;
摘要：
引用
收藏
页码：271 / 272
页数：2
相关论文
共 31 条
  • [1] Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
    Ugur, Sibel Aylin
    Tolun, Aslihan
    HUMAN MOLECULAR GENETICS, 2008, 17 (17) : 2644 - 2653
  • [2] Homozygous Nonsense Mutation in WNT10B and Sporadic Split-Hand/Foot Malformation (SHFM) With Autosomal Recessive Inheritance
    Blattner, Ariane
    Huber, Andreas R.
    Roethlisberger, Benno
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 2053 - 2056
  • [3] A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation
    Khan, S.
    Basit, S.
    Zimri, F. K.
    Ali, N.
    Ali, G.
    Ansar, M.
    Ahmad, W.
    CLINICAL GENETICS, 2012, 82 (01) : 48 - 55
  • [4] Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
    Ullah, Asmat
    Gul, Ajab
    Umair, Muhammad
    Irfanullah
    Ahmad, Farooq
    Aziz, Abdul
    Wali, Abdul
    Ahmad, Wasim
    GENETICS AND MOLECULAR BIOLOGY, 2018, 41 (01) : 1 - 8
  • [5] Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation
    Bilal, Muhammad
    Haack, Tobias B.
    Buchert, Rebecca
    Peralta, Susana
    Ahmad, Imtiaz
    Faisal
    Abbasi, Sanaullah
    Ahmad, Wasim
    MOLECULAR SYNDROMOLOGY, 2023, 14 (06) : 469 - 476
  • [6] Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families
    Aziz, Abdul
    Irfanullah
    Khan, Saadullah
    Zimri, Faridullah Khan
    Muhammad, Noor
    Rashid, Sajid
    Ahmad, Wasim
    GENE, 2014, 534 (02) : 265 - 271
  • [7] Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
    Elalaoui, Siham Chafai
    Fejjal, Nawfal
    Li, Yun
    Thiele, Holger
    Altmueller, Janine
    Guaoua, Soukaina
    Nuernberg, Peter
    Wollnik, Bernd
    Sefiani, Abdelaziz
    Ratbi, Ilham
    PAN AFRICAN MEDICAL JOURNAL, 2021, 39
  • [8] Split hand-foot malformation and a novel WNT10B mutation
    Kantaputra, Piranit Nik
    Kapoor, Seema
    Verma, Prashant
    Intachai, Worrachet
    Cairns, James R. Ketudat
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (07) : 372 - 375
  • [9] A classification system for split-hand/foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations
    Al Ghamdi, Malak A.
    Al-Qattan, Mohammad M.
    Hadadi, Ali
    Alabdulrahman, Abdulkareem
    Almuzzaini, Bader
    Alatwi, Nasser
    AlBalwi, Mohammed A.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (03)
  • [10] A Novel Homozygous Nonsense Mutation p.Cys366*in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
    Khan, Amjad
    Wang, Rongrong
    Han, Shirui
    Umair, Muhammad
    Alshabeeb, Mohammad A.
    Ansar, Muhammad
    Ahmad, Wasim
    Alaamery, Manal
    Zhang, Xue
    FRONTIERS IN PEDIATRICS, 2020, 7
1234