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
  • [21] Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype
    Prasad, C
    Marles, S
    Prasad, AN
    Nikkel, S
    Longstaffe, S
    Peabody, D
    Eng, B
    Wright, S
    Waye, JS
    Nowaczyk, MJM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (01): : 64 - 68
  • [22] A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype
    Chen, F.
    Wang, J.
    Yao, Z.
    Li, M.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2020, 45 (04) : 505 - 507
  • [23] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome
    Krol, Rafal Przybyslaw
    Nozu, Kandai
    Nakanishi, Koichi
    Iijima, Kazumoto
    Takeshima, Yasuhiro
    Fu, Xue Jun
    Nozu, Yoshimi
    Kaito, Hiroshi
    Kanda, Kyoko
    Matsuo, Masafumi
    Yoshikawa, Norishige
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2008, 23 (08) : 2525 - 2530
  • [24] A 43 years-old patient with Cornelia de Lange Syndrome with NIPBL gene mutation and a mild phenotype
    Vilella, Thaina
    Nunes, Beatriz Carvalho
    Pinheiro, Isabel
    Aoi, Haromi
    Matsumoto, Naomichi
    Kim, Chong
    Melaragno, Maria Isabel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 235 - 235
  • [25] CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G
    Tang, Min Moon
    Tan, Wooi Chiang
    Surana, Uttam
    Leong, Kin Fon
    Pramano, Zacharias Aloysius Dwi
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2021, 60 (04) : E154 - E156
  • [26] A novel mutation in the GJB2 (connexin 26) gene in a child with clinical and histologic features of keratitis-ichthyosis-deafness syndrome
    Koppelhus, Uffe
    Esberg, Gitte
    Tranebjaerg, Lisbeth
    Ramsing, Mette
    Sommerlund, Mette
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2010, 62 (03) : AB71 - AB71
  • [27] A Novel OCRL Gene Mutation in a Child with Lowe Syndrome
    Lee, S. J.
    Kim, S. J.
    Lee, D. Y.
    Kim, M. S.
    HONG KONG JOURNAL OF PAEDIATRICS, 2017, 22 (03) : 170 - 173
  • [28] A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome
    Sugimoto, Keisuke
    Nishi, Hitomi
    Miyazawa, Tomoki
    Fujita, Shinsuke
    Okada, Mitsuru
    Takemura, Tsukasa
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2014, 232 (03): : 163 - 166
  • [29] A Novel Gene Mutation and Atypical Clinical Phenotype of Kallmann Syndrome
    Yumiko, Terada
    Fujisawa, Yusuke
    Chiba, Yuta
    Kinjo, Kenichi
    Tsukamura, Atsushi
    Yamaguchi, Tomoe
    Yoshii, Keisuke
    Naiki, Yasuhiro
    Horikawa, Reiko
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 593 - 593
  • [30] Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
    Kitsiou-Tzeli, Sophia
    Papadopoulou, Anna
    Kanaka-Gantenbein, Christina
    Fretzayas, Andreas
    Daskalopoulos, Dimitris
    Kanavakis, Emmanuel
    Nicolaidou, Polyxeni
    HORMONE RESEARCH, 2006, 66 (03) : 124 - 131
12345