Ritscher-Schinzel syndrome: broadening the phenotype in prenatal and adulthood

被引:0
作者
Nery, Sabrina [1 ,2 ]
Maia, Nuno [3 ,4 ]
Fortuna, Ana Maria [3 ,4 ,5 ]
Damasio, Joana [4 ,5 ,6 ,7 ,8 ]
Coale, Elizabeth [9 ]
Willisi, Mary [10 ]
Jorge, Paula [3 ,4 ,5 ]
Hojte, Anne F. [1 ]
Fenger, Christina Duhring [1 ,11 ]
Moeller, Rikke Steensbjerre [1 ,12 ]
Bayat, Allan [1 ,12 ]
机构
[1] Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark
[2] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Catanzaro, Italy
[3] Ctr Hosp Univ Santo Antonio CHUdSA, Ctr Genet Med Jacinto Magalhaes CGM, Porto, Portugal
[4] Univ Porto, ICBAS Sch Med & Biomed Sci, UMIB Unit Multidisciplinary Res Biomed, Porto, Portugal
[5] ITR Lab Integrat & Translat Res Populat Hlth, Porto, Portugal
[6] Ctr Hosp Univ Santo Antonio CHUdSA, Serv Neurol, Porto, Portugal
[7] Univ Porto, Inst Biol Mol & Celular, CGPP, i3S Inst Invest & Inovacao Saude, Porto, Portugal
[8] Univ Porto, UnIGENE, Inst Invest & Inovacao Saude i3S, Porto, Portugal
[9] Univ Washington, Dept Maternal Fetal Med, Med Ctr, Seattle, WA USA
[10] Naval Med Ctr San Diego, Dept Pediat, San Diego, CA USA
[11] Amplexa Genet AS, Odense, Denmark
[12] Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P12.037.B
引用
收藏
页码:538 / 538
页数:1
相关论文
共 50 条
  • [31] CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome
    Amika Singla
    Carolyn Rogers
    Mary-Joe Touma
    Yassin El-Najjar
    Alison Colley
    Daniel J. Boesch
    Daniel D. Billadeau
    Jozef Gecz
    Baoyu Chen
    Ezra Burstein
    [J]. BMC Medical Genomics, 18 (1)
  • [32] Ritscher–Schinzel cranio-cerebello-cardiac syndrome
    T E Herman
    M J Siegel
    [J]. Journal of Perinatology, 2008, 28 : 715 - 718
  • [33] Ritscher-Schinzel (Cranio-Cerebello-Cardiac, 3C) Syndrome: Report of Four New Cases With Renal Involvement
    Seidahmed, Mohammed Zein
    Alkuraya, Fowzan S.
    Shaheed, Meeralebbae
    Al Zahrani, Mohammed
    Al Manea, Waleed
    Mansour, Fayzeh
    Mustafa, Tareq
    Farid, Gehan
    Salih, Mustafa A.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (06) : 1393 - 1397
  • [34] ''Shifted'' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example
    Lurie, IW
    Ferencz, C
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 66 (01): : 72 - 74
  • [35] Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
    Mateusz Kolanczyk
    Peter Krawitz
    Jochen Hecht
    Anna Hupalowska
    Marta Miaczynska
    Katrin Marschner
    Claire Schlack
    Denise Emmerich
    Karolina Kobus
    Uwe Kornak
    Peter N Robinson
    Barbara Plecko
    Gernot Grangl
    Sabine Uhrig
    Stefan Mundlos
    Denise Horn
    [J]. European Journal of Human Genetics, 2015, 23 : 633 - 638
  • [36] 3-C Ritscher–Schinzel syndrome with spinal subarachnoid cyst
    K M Sargar
    A Radmanesh
    T E Herman
    M J Siegel
    [J]. Journal of Perinatology, 2015, 35 : 233 - 234
  • [37] Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised
    Gjerulfsen, Cathrine E.
    Moller, Rikke S.
    Fenger, Christina D.
    Hammer, Trine B.
    Bayat, Allan
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (07)
  • [38] Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    DeScipio, C
    Schneider, L
    Young, TL
    Wasserman, N
    Yaeger, D
    Lu, FM
    Wheeler, PG
    Williams, MS
    Bason, L
    Jukofsky, L
    Menon, A
    Geschwindt, R
    Chudley, AE
    Saraiva, J
    Schinzel, AAGL
    Guichet, A
    Dobyns, WE
    Toutain, A
    Spinner, NB
    Krantz, ID
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (01) : 3 - 11
  • [39] Erratum: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
    Mateusz Kolanczyk
    Peter Krawitz
    Jochen Hecht
    Anna Hupalowska
    Marta Miaczynska
    Katrin Marschner
    Claire Schlack
    Denise Emmerich
    Karolina Kobus
    Uwe Kornak
    Peter N Robinson
    Barbara Plecko
    Gernot Grangl
    Sabine Uhrig
    Stefan Mundlos
    Denise Horn
    [J]. European Journal of Human Genetics, 2015, 23 : 720 - 720
  • [40] 新生儿CCDC22基因变异致Ritscher-Schinzel综合征1例
    黄昊
    季开拓
    [J]. 中华新生儿科杂志(中英文), 2023, 38 (07)