Hypoglycemia is a feature of Kabuki syndrome and can be due to hyperinsulinism.

被引:0
|
作者
Ming, JE
Satin-Smith, M
Bason, L
Stanley, CA
Zackal, EH
机构
[1] Childrens Hosp Philadelphia, Div Human Genet & Endocrinol, Philadelphia, PA 19104 USA
[2] Childrens Hosp Philadelphia, Dept Pediat, Div Endocrinol, Philadelphia, PA 19104 USA
[3] Hebrew Univ Jerusalem, Hadassah Med Sch, IL-91010 Jerusalem, Israel
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
604
引用
收藏
页码:A108 / A108
页数:1
相关论文
共 50 条
  • [1] Hypoglycemia in Kabuki Syndrome
    Subbarayan, Anbezhil
    Hussain, Khalid
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (02) : 467 - 471
  • [2] Hyperinsulinism in Kabuki Syndrome: Clinical Characteristics and Management
    McKnight, Heather
    Boodhansingh, Kara
    Mitteer, Lauren
    Izumi, Kosuke
    Lord, Katherine
    Stanley, Charles
    De Leon, Diva
    Ackermann, Amanda
    HORMONE RESEARCH IN PAEDIATRICS, 2020, 93 : 136 - 137
  • [3] Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome
    Rosenfeld, Elizabeth
    Mitteer, Lauren M.
    Boodhansingh, Kara
    Sanders, Victoria R.
    Mcknight, Heather
    De Leon, Diva D.
    JOURNAL OF THE ENDOCRINE SOCIETY, 2024, 8 (07)
  • [4] Kabuki syndrome and Hyperinsulinism - A report of two cases
    Robert, MLP
    Tumpenny, P
    Whiteford, M
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S51 - S51
  • [5] Hypoglycemia - The clinical syndrome, etiology and treatment - Report of a case due to hyperinsulinism
    Gammon, GD
    Tenery, WC
    ARCHIVES OF INTERNAL MEDICINE, 1931, 47 (06) : 829 - 854
  • [6] Congenital hyperinsulinism associated with Kabuki syndrome due to KMT2D mutation
    Rosenheck, Sarah
    Ackermann, Amanda M.
    Mukund, Kanhere Mansi
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 1): : 97 - 98
  • [7] Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments
    McNight, Heather
    Boodhansingh, Kara
    Mitteer, Laureen
    Izumi, Kosuke
    Lord, Katherine
    Stanley, Charles
    De Leon, Diva
    Ackermann, Amanda
    JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES, 2020, 52 : 107 - 107
  • [8] Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome
    Souabni, Saloua Ait
    Harvengt, Antoine
    Legat, Camille
    Lysy, Philippe A.
    CLINICAL CASE REPORTS, 2023, 11 (06):
  • [9] HYPOGLYCEMIA DUE TO ORGANIC HYPERINSULINISM IN INFANCY
    BELL, WE
    SAMAAN, NA
    LONGNECKER, DS
    ARCHIVES OF NEUROLOGY, 1970, 23 (04) : 330 - +
  • [10] Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals
    Yap, Kai Lee
    Johnson, Amy E. Knight
    Fischer, David
    Kandikatla, Priscilla
    Deml, Jacea
    Nelakuditi, Viswateja
    Halbach, Sara
    Jeha, George S.
    Burrage, Lindsay C.
    Bodamer, Olaf
    Benavides, Valeria C.
    Lewis, Andrea M.
    Ellard, Sian
    Shah, Pratik
    Cody, Declan
    Diaz, Alejandro
    Devarajan, Aishwarya
    Truong, Lisa
    Greeley, Siri Atma W.
    De Leo-Crutchlow, Diva D.
    Edmondson, Andrew C.
    Das, Soma
    Thornton, Paul
    Waggoner, Darrel
    del Gaudio, Daniela
    GENETICS IN MEDICINE, 2019, 21 (01) : 233 - 242