A novel pathogenic NCSTN variant in a large Australian pedigree affected with hidradenitis suppurativa

被引：0
|
作者：
Vekic, D. [1 ,2 ,3 ]
Cains, G. [1 ,2 ,3 ]
Woods, J. [1 ,3 ]
Moghaddas, F. [4 ,5 ]
Masters, S. [4 ,5 ]
机构：
[1] Liverpool Hosp, Dept Dermatol, Sydney, NSW, Australia
[2] Univ New South Wales, Sydney, NSW, Australia
[3] Ingham Inst Appl Med Res, Liverpool, NSW, Australia
[4] Walter & Eliza Hall Inst Med Res, Inflammat Div, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia
来源：
AUSTRALASIAN JOURNAL OF DERMATOLOGY | 2019年 / 60卷
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：94 / 94
页数：1
相关论文
共 49 条
  • [41] Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia
    Jain, Abhinav
    Govindaraj, Geeta Madathil
    Edavazhippurath, Athulya
    Faisal, Nabeel
    Bhoyar, Rahul C.
    Gupta, Vishu
    Uppuluri, Ramya
    Manakkad, Shiny Padinjare
    Kashyap, Atul
    Kumar, Anoop
    Divakar, Mohit Kumar
    Imran, Mohamed
    Sawant, Sneha
    Dalvi, Aparna
    Chakyar, Krishnan
    Madkaikar, Manisha
    Raj, Revathi
    Sivasubbu, Sridhar
    Scaria, Vinod
    PLOS ONE, 2021, 16 (07):
  • [42] From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing
    van Luttikhuizen, Jana Lisa
    Bublitz, Janin
    Schubert, Stephanie
    Schmidt, Gunnar
    Hofmann, Winfried
    Morlot, Susanne
    Buurman, Reena
    Auber, Bernd
    Schlegelberger, Brigitte
    Steinemann, Doris
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):
  • [43] Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
    Mohsenpour, Neda
    Roknizadeh, Hassan
    Maghbooli, Mehdi
    Changi-Ashtiani, Majid
    Shahrooei, Mohammad
    Salehi, Mansoor
    Behnam, Mahdiyeh
    Shahani, Tina
    Biglari, Alireza
    INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 2019, 8 (03) : 169 - 178
  • [44] Sequencing of ABCA4 in a large international Stargardt disease cohort reveals novel pathogenic deep intronic variation and a variant enriched in Ireland
    Whelan, Laura
    Dockery, Adrian
    Khan, Mubeen
    Corradi, Zelia
    Stephenson, Kirk
    Zhu, Julia
    Cornelis, Stephanie
    Turner, Jacqueline
    O'Byrne, James
    Silvestri, Giuliana
    Keegan, David
    Kenna, Paul
    Roosing, Susanne
    Dhaenens, Claire-Marie
    Cremers, Frans
    Farrar, G.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [45] Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet
    Melikishvili, Gia
    Bienvenu, Thierry
    Tabatadze, Nazhi
    Gachechiladze, Tamar
    Kurua, Ekaterine
    Gverdtsiteli, Sopio
    Melikishvili, Mariam
    Dulac, Olivier
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2022, 94 : 70 - 73
  • [46] A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
    Li, Wei
    Fan, Xin
    Zhang, Yue
    Huang, Limei
    Jiang, Tingting
    Qin, Zailong
    Su, Jiasun
    Luo, Jingrong
    Yi, Shang
    Zhang, Shujie
    Shen, Yiping
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [47] Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
    Yang, Lisha
    Fu, Jiewen
    Cheng, Jingliang
    Zhou, Baixu
    Liu, Xiaoyan
    Anuchapreeda, Songyot
    Fu, Junjiang
    MOLECULAR BIOLOGY REPORTS, 2023, 50 (02) : 1117 - 1123
  • [48] Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
    Lisha Yang
    Jiewen Fu
    Jingliang Cheng
    Baixu Zhou
    Xiaoyan Liu
    Songyot Anuchapreeda
    Junjiang Fu
    Molecular Biology Reports, 2023, 50 : 1117 - 1123
  • [49] Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree
    Angelov, Teodor
    Chamova, Teodora
    Atemin, Slavena
    Todorov, Tihomir
    Ormandzhiev, Slavko
    Tourtourikov, Ivan
    Todorova, Albena
    Devos, David
    Tournev, Ivailo
    FRONTIERS IN NEUROLOGY, 2023, 14
12345