First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature

被引：1
|
作者：
Nobili, Valerio [1 ,2 ]
Mosca, Antonella [1 ]
Francalanci, Paola [4 ]
Cristina, Digilio Maria [5 ]
Dallapiccola, Bruno [3 ,5 ]
机构：
[1] Sapienza Univ Rome, Hepatometab Unit, Rome, Italy
[2] Sapienza Univ Rome, Dept Pediat & Infantile Neuropsychiat, Rome, Italy
[3] Bambino Gesu Pediat Hosp, IRCCS, Sci Directorate, Rome, Italy
[4] Bambino Gesu Pediat Hosp, IRCCS, Dept Pathol, Rome, Italy
[5] Bambino Gesu Pediat Hosp, IRCCS, Genet & Rare Dis Res Div, Rome, Italy
来源：
CLINICAL DYSMORPHOLOGY | 2018年 / 27卷 / 02期
关键词：
1P36; DELETION; PHENOTYPE;
D O I：
10.1097/MCD.0000000000000210
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：42 / 45
页数：4
相关论文
共 6 条
  • [1] Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
    Yokoyama, Emiy
    Villarroel, Camilo E.
    Diaz, Sinhue
    Del Castillo, Victoria
    Perez-Vera, Patricia
    Salas, Consuelo
    Gomez, Samuel
    Barreda, Renee
    Molina, Bertha
    Frias, Sara
    MOLECULAR CYTOGENETICS, 2020, 13 (01)
  • [2] Prenatal findings in 1p36 deletion syndrome: New cases and a literature review
    Guterman, Sarah
    Beneteau, Claire
    Redon, Sylvia
    Dupont, Celine
    Missirian, Chantal
    Jaeger, Pauline
    Herve, Berenice
    Jacquin, Clemence
    Douet-Guilbert, Nathalie
    Till, Marianne
    Tabet, Anne-Claude
    Moradkhani, Kamran
    Malan, Valerie
    Doco-Fenzy, Martine
    Vialard, Francois
    PRENATAL DIAGNOSIS, 2019, 39 (10) : 871 - 882
  • [3] OEIS Complex Associated With Chromosome 1p36 Deletion: A Case Report and Review
    El-Hattab, Ayman W.
    Skorupski, Josh C.
    Hsieh, Michael H.
    Breman, Amy M.
    Patel, Ankita
    Cheung, Sau Wai
    Craigen, William J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (02) : 504 - 511
  • [4] 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review
    Lodato, Valentina
    Orlando, Valeria
    Alesi, Viola
    Di Tommaso, Silvia
    Bengala, Mario
    Parlapiano, Giovanni
    Agnolucci, Elisa
    Cicenia, Marianna
    Cali, Federica
    Digilio, Maria Cristina
    Drago, Fabrizio
    Novelli, Antonio
    Baban, Anwar
    JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE, 2021, 8 (11)
  • [5] 1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization (FISH): a case report
    Dafir, Kenza
    Bouzid, Fatima Zahra
    Mansouri, Maria
    Aboussair, Nisrine
    PAN AFRICAN MEDICAL JOURNAL, 2020, 37 : 349
  • [6] Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature
    Koca, Serkan Bilge
    TURKISH JOURNAL OF PEDIATRICS, 2023, 65 (05) : 853 - 861
1