A Novel Homozygous 62bp Insertion In ECM1 Gene Causes Lipoid Proteinosis In A Multigenerational Pakistani Family

被引:0
|
作者
Hameed, Abdul [1 ]
Nasir, M. [1 ]
Ajmal, M. [1 ]
Latif, A. [1 ]
机构
[1] Leprosy Hosp Rawalpindi, Rawalpindi, Pakistan
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S64 / S64
页数:1
相关论文
共 49 条
  • [41] A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
    Hajra, Bibi
    Abdullah
    Bibi, Nousheen
    Syed, Fibhaa
    Ullah, Asmat
    Ahmad, Wasim
    Umm-e-Kalsoo
    ANAIS BRASILEIROS DE DERMATOLOGIA, 2023, 98 (05) : 580 - 586
  • [42] A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family
    Naseer, Muhammad Imran
    Rasool, Mahmood
    Muthaffar, Osama Yousef
    Sabbagh, Abdulrahman J.
    Chaudhary, Adeel G.
    Al-Qahtani, Mohammad H.
    GENES & GENOMICS, 2017, 39 (12) : 1317 - 1323
  • [43] A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family
    Muhammad Imran Naseer
    Mahmood Rasool
    Osama Yousef Muthaffar
    Abdulrahman J. Sabbagh
    Adeel G. Chaudhary
    Mohammad H. Al-Qahtani
    Genes & Genomics, 2017, 39 : 1317 - 1323
  • [44] A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review
    Alblooshi, Abdulla
    Al-Shamsi, Aisha
    PEDIATRIC NEPHROLOGY, 2023, 38 (07) : 2284 - 2285
  • [45] A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
    Basit, Sulman
    Naqvi, Syed Kamran-ul-Hassan
    Wasif, Naveed
    Ali, Ghazanfar
    Ansar, Muhammad
    Ahmad, Wasim
    BMC MEDICAL GENETICS, 2008, 9
  • [46] A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis
    Fu, Jiewen
    Ma, Lu
    Cheng, Jingliang
    Yang, Lisha
    Wei, Chunli
    Fu, Shangyi
    Lv, Hongbin
    Chen, Rui
    Fu, Junjiang
    JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2018, 22 (11) : 5662 - 5669
  • [47] The novel heterozygous Asp217Asn CYP1B1 gene mutations causes severe primary open angle glaucoma (POAG) in large Pakistani family
    Shahani, Yaqoob
    Memon, Samreen
    Warya, Ali Muhammad
    Bano, Umbreen
    Sheikh, Pashmina
    Gul, Samina
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2017, 22
  • [48] Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family
    Kubota, Daiki
    Oishi, Noriko
    Gocho, Kiyoko
    Kikuchi, Sachiko
    Yamaki, Kunihiko
    Igarashi, Tsutomu
    Takahashi, Hiroshi
    Ishida, Nobuo
    Iwata, Takeshi
    Mizota, Atsushi
    Kameya, Shuhei
    OPHTHALMIC GENETICS, 2019, 40 (05) : 480 - 487
  • [49] Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
    An, Jinxia
    Yang, Jie
    Wang, Yan
    Wang, Yanxia
    Xu, Baicheng
    Xie, Guangmei
    Chai, Sanming
    Liu, Xiaoling
    Xu, Sijuan
    Wen, Xiaoxiao
    He, Qing
    Liu, Huijun
    Li, Chen
    Dey, Subrata Kumar
    Ni, Yali
    Banerjee, Santasree
    FRONTIERS IN GENETICS, 2019, 10