Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

被引：0
|
作者：
Gregorio Serra
Sofia Felice
Vincenzo Antona
Maria Rita Di Pace
Mario Giuffrè
Ettore Piro
Giovanni Corsello
机构：
[1] University of Palermo,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”
来源：
Italian Journal of Pediatrics | / 48卷
关键词：
CFCS; RASopathies; Contiguous gene syndrome; Array-CGH; Genotype-phenotype correlations; HPS; Case report;
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 15 条
  • [1] Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
    Serra, Gregorio
    Felice, Sofia
    Antona, Vincenzo
    Di Pace, Maria Rita
    Giuffre, Mario
    Piro, Ettore
    Corsello, Giovanni
    ITALIAN JOURNAL OF PEDIATRICS, 2022, 48 (01)
  • [2] Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation
    Bochet, Pierre
    Ramond, Francis
    Touraine, Renaud
    Thomas, Thierry
    Marotte, Hubert
    JOINT BONE SPINE, 2020, 87 (02) : 169 - 169
  • [3] CLINICAL VARIABILITY OF CARDIO-FACIO-CUTANEOUS SYNDROME - REPORT OF 2 ADDITIONAL CASES
    GHEZZI, M
    PARENTI, G
    DEFRANCHIS, R
    FARINA, V
    DELEVA, F
    GUARINO, A
    CANANI, RB
    STRISCIUGLIO, P
    CLINICAL GENETICS, 1992, 42 (04) : 206 - 209
  • [4] MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease
    Gos, Monika
    Smigiel, Robert
    Kaczan, Teresa
    Landowska, Aleksandra
    Abramowicz, Anna
    Sasiadek, Malgorzata
    Bal, Jerzy
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (07) : 1670 - 1674
  • [5] Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome
    Leoni, Chiara
    Tedesco, Marta
    Onesimo, Roberta
    Giorgio, Valentina
    Rigante, Donato
    Zampino, Giuseppe
    IMMUNOLOGY LETTERS, 2020, 227 : 79 - 80
  • [6] Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy
    Chen, Jing
    Che, Lin
    Xu, Chao
    Zhao, Suzhou
    Yang, Jiangfei
    Li, Mengting
    Li, Guimei
    Shen, Yiping
    GENE, 2020, 733
  • [7] Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency
    Zakharova, Victorya
    Raykina, Elena
    Mersiyanova, Irina
    Deordieva, Ekaterina
    Pershin, Dmitry
    Vedmedskia, Victorya
    Rodina, Yulia
    Kuzmenko, Natalia
    Maschan, Michael
    Shcherbina, Anna
    HUMAN MUTATION, 2022, 43 (12) : 1852 - 1855
  • [8] CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME - REPORT OF 2 PATIENTS WITHOUT HYPERKERATOTIC SKIN-LESIONS
    MATSUDA, Y
    MURANO, I
    KONDOH, O
    MATSUO, K
    KAJII, T
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (02): : 144 - 147
  • [9] Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
    Szczawinska-Poplonyk, Aleksandra
    Poplonyk, Natalia
    Niedziela, Marek
    Sowinska-Seidler, Anna
    Sztromwasser, Pawel
    Jamsheer, Aleksander
    Obara-Moszynska, Monika
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [10] MAP2K1基因突变致Cardio-facio-cutaneous综合征1例
    杨楠
    索磊
    国际遗传学杂志, 2022, (02) : 156 - 159
12