Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation)

被引:0
|
作者
Kim, Do Han [1 ]
Marble, Michael [2 ]
Corral, Juan E. [3 ]
机构
[1] Icahn Sch Med Mt Sinai, Mt Sinai Morningside & West, New York, NY USA
[2] Univ New Mexico, Hlth Sci Ctr, Albuquerque, NM 87106 USA
[3] Prisma Hlth, Greenville, SC USA
来源
AMERICAN JOURNAL OF GASTROENTEROLOGY | 2024年 / 119卷 / 10S期
关键词
D O I
10.14309/01.ajg.0001043488.03645.f2
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
S3530
引用
收藏
页码:S2340 / S2340
页数:1
相关论文
共 50 条
  • [1] A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome
    Murata, K
    Shinkai, H
    Ishikiriyama, S
    Yamazaki, M
    Fukuzumi, Y
    Hatamochi, A
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2003, 33 (01) : 67 - 69
  • [2] Left-sided CHILD syndrome caused by a nonsenese mutation in the NSDHL gene
    Hummel, M
    Cunningham, D
    Herman, GE
    Mullett, CJ
    Kelley, RI
    PEDIATRIC RESEARCH, 2002, 51 (04) : 67A - 67A
  • [3] Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
    Hummel, M
    Cunningham, D
    Mullett, CJ
    Kelley, RI
    Herman, GE
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (03): : 246 - 251
  • [4] Mild clinical presentation of a patient with a mutation in the NSDHL gene
    Ormerod, E.
    Bownass, L.
    Smithson, S.
    Zhang, Y.
    Dunnill, M. G. S.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2019, 44 (04) : 456 - 458
  • [5] A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing
    Saito, M.
    Ishiko, A.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 (05) : 1204 - 1206
  • [6] A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing
    Saito, M
    Ishiko, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A75 - A75
  • [7] Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene
    Danarti, Retno
    Grzeschik, Karl-Heinz
    Radiono, Sunardi
    Koenig, Arne
    Happle, Rudolf
    EUROPEAN JOURNAL OF DERMATOLOGY, 2010, 20 (05) : 634 - 635
  • [8] CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder
    Avgerinou, G. P.
    Asvesti, A. P.
    Katsambas, A. D.
    Nikolaou, V. A.
    Christofidou, E. C.
    Grzeschik, K. H.
    Happle, R.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2010, 24 (06) : 733 - 736
  • [9] Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome
    Yang, Zhou
    Hartmann, Britta
    Xu, Zhe
    Ma, Lin
    Happle, Rudolf
    Schlipf, Nina
    Zhang, Li-xin
    Xu, Zi-gang
    Wang, Zhao-yang
    Fischer, Judith
    ACTA DERMATO-VENEREOLOGICA, 2015, 95 (08) : 1007 - 1008
  • [10] A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
    Tan, Ene-Choo
    Chia, Shi Yun
    Rafi'ee, Khadijah
    Lee, Shan Xian
    Kwek, Andrew Boon Eu
    Tan, Sze Hwa
    Ng, Victor Weng Leong
    Wei, Heming
    Koo, Stephanie
    Koh, Ai Ling
    Koh, Mark Jean-Aan
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (01):