Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report

被引:0
作者
Reihaneh Khorasanian
Marzieh Mojbafan
Nastaran Khosravi
机构
[1] Iran University of Medical Sciences (IUMS),Department of Medical Genetics and Molecular Biology, Faculty of Medicine
[2] Iran University of Medical Sciences,Student Research Committee, Faculty of Medicine
[3] Ali-Asghar Children’s Hospital,Department of Medical Genetics
[4] Iran University of Medical Sciences,Division of Neonatology, Ali
来源
Molecular Biology Reports | 2021年 / 48卷
关键词
CCHS; PHOX2B; Congenital central hypoventilation syndrome; Early-onset CCHS; PARMs;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:8239 / 8243
页数:4
相关论文
共 50 条
  • [41] Congenital central hypoventilation syndrome and carbon dioxide sensitivity
    Rossor, Thomas
    Soe, Aung
    Bhat, Ravindra
    Greenough, Anne
    EUROPEAN JOURNAL OF PEDIATRICS, 2014, 173 (12) : 1727 - 1730
  • [42] Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
    Musthaffa, Yassmin Mansela
    Goyal, Vikas
    Harris, Margaret-Anne
    Kapur, Nitin
    Leger, Juliane
    Harris, Mark
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (12) : 1325 - 1333
  • [43] Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
    Hennewig, Ulrike
    Hadzik, Berit
    Vogel, Markus
    Meissner, Thomas
    Goecke, Timm
    Peters, Hartmut
    Selzer, Georg
    Mayatepek, Ertan
    Hoehn, Thomas
    JOURNAL OF HUMAN GENETICS, 2008, 53 (06) : 573 - 577
  • [44] Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
    Ulrike Hennewig
    Berit Hadzik
    Markus Vogel
    Thomas Meissner
    Timm Goecke
    Hartmut Peters
    Georg Selzer
    Ertan Mayatepek
    Thomas Hoehn
    Journal of Human Genetics, 2008, 53 : 573 - 577
  • [45] Congenital central hypoventilation syndrome mimicking mitochondrial disease
    Rojnueangnit, Kitiwan
    Descartes, Maria
    CLINICAL CASE REPORTS, 2018, 6 (03): : 465 - 468
  • [46] Dental treatment of a child with congenital central hypoventilation syndrome
    Boka V.
    Lefkelidou A.
    Athanasiadou E.
    European Archives of Paediatric Dentistry, 2016, 17 (3) : 211 - 214
  • [47] Congenital central hypoventilation syndrome and carbon dioxide sensitivity
    Thomas Rossor
    Aung Soe
    Ravindra Bhat
    Anne Greenough
    European Journal of Pediatrics, 2014, 173 : 1727 - 1730
  • [48] Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive
    Fain, Mary Ellen
    Raghunandan, Sharmila
    Pencheva, Bojana
    Leu, Roberta M.
    Kasi, Ajay S.
    JOURNAL OF CLINICAL SLEEP MEDICINE, 2024, 20 (03): : 478 - 481
  • [49] Central Congenital Hypoventilation Syndrome: Changing Face of a Less Mysterious but More Complex Genetic Disorder
    Grigg-Damberger, Madeleine
    Wells, Audrey
    SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE, 2009, 30 (03) : 262 - 274
  • [50] Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians
    Fisher, Michelle
    Smeiles, Chelsey
    Jnah, Amy J.
    Ruiz, Michelle Elias
    Difiore, Tina
    Sewell, Kerry
    NEONATAL NETWORK, 2019, 38 (04): : 217 - 225