Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

被引：0
|
作者：
Xi Yang
Mingming Yuan
Zhuoguang Li
Yanqin Ying
Ling Hou
Xiaoping Luo
机构：
[1] Huazhong University of Science and Technology,Department of Pediatrics, Tongji Hospital of Tongji Medical College
[2] Shenzhen Children’s Hospital,Department of Endocrinology
来源：
BMC Medical Genomics | / 14卷
关键词：
Isolated growth hormone deficiency; GH1; Gene; Mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Structural analysis of human growth hormone with respect to the dominant expression of growth hormone (GH) mutations in isolated GH deficiency type II
    Iliev, DI
    Wittekindt, NE
    Ranke, MB
    Binder, G
    ENDOCRINOLOGY, 2005, 146 (03) : 1411 - 1417
  • [42] Type 1B Isolated Growth Hormone Deficiency in an Irish Kindred: A Case Report and Development of Mutations Scanning Assays for GH-1, GHRHR and GHRH
    Casey, R.
    Hannon, M.
    Brazil, M. J.
    MacNamara, B.
    Cumpf, S.
    Crowley, V. E. F.
    O'Halloran, D. J.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2012, 181 : S363 - S363
  • [43] Growth Hormone (GH-1) Gene Deletions in Children with Isolated Growth Hormone Deficiency (IGHD)
    Desai, Meena P.
    Mithbawkar, Shilpa M.
    Upadhye, Pradnya S.
    Shalia, Kavita K.
    INDIAN JOURNAL OF PEDIATRICS, 2012, 79 (07): : 875 - 883
  • [44] Growth Hormone (GH-1) Gene Deletions in Children with Isolated Growth Hormone Deficiency (IGHD)
    Meena P. Desai
    Shilpa M. Mithbawkar
    Pradnya S. Upadhye
    Kavita K. Shalia
    The Indian Journal of Pediatrics, 2012, 79 : 875 - 883
  • [45] ISOLATED GROWTH-HORMONE (GH) DEFICIENCY TYPE IA ASSOCIATED WITH A 45-KILOBASE GENE DELETION WITHIN THE HUMAN GH GENE-CLUSTER
    AKINCI, A
    KANAKA, C
    EBLE, A
    AKAR, N
    VIDINLISAN, S
    MULLIS, PE
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1992, 75 (02): : 437 - 441
  • [46] Clinical challenges in the management of isolated GH deficiency type IA in adulthood
    Casteras, Anna
    Kratzsch, Juergen
    Ferrandez, Angel
    Zafon, Carles
    Carrascosa, Antonio
    Mesa, Jordi
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2014,
  • [47] INVESTIGATION AND IDENTIFICATION SALMO TRUTTA CASPIUS BY THE GROWTH HORMONE TYPE 1 (GH1) GENE ANALOGUE
    Rezaei, Abolhasan
    Akhshabi, Sheyda
    Jamalzadeh, Hamid Reza
    BANATS JOURNAL OF BIOTECHNOLOGY, 2011, 2 (03) : 76 - 82
  • [48] Isolated growth hormone deficiency and amenorrhea-Case report
    Susilo, Artha Falentin Putri
    Tjandraprawira, Kevin Dominique
    Rachmawati, Anita
    ANNALS OF MEDICINE AND SURGERY, 2022, 84
  • [49] Isolated growth hormone deficiency and the GH-1 gene:: Update 2002
    Binder, G
    HORMONE RESEARCH, 2002, 58 : 2 - 6
  • [50] RSAI POLYMORPHISM OF THE HUMAN GROWTH-HORMONE GENE (GH1)
    ORIOLA, J
    CASAMITJANA, R
    NOGUES, N
    PAGES, R
    ROMERO, M
    RIVERAFILLAT, F
    NUCLEIC ACIDS RESEARCH, 1991, 19 (24) : 6983 - 6983
12345