Silvery-gray hair in a newborn.
作者信息
Wong Lawrence, Yano Shoji
机构信息
Genetics Division, Department of Pediatrics, LAC-USC Medical Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
出版信息
JAMA. 2012 Aug 8;308(6):617-8. doi: 10.1001/jama.2012.8136.
PMID:22871872
Abstract
摘要
相似文献
1
Silvery-gray hair in a newborn.新生儿出现银灰色头发。
JAMA. 2012 Aug 8;308(6):617-8. doi: 10.1001/jama.2012.8136.
2
Further evidence for genotype-phenotype disparity in Griscelli syndrome.格里塞利综合征中基因型-表型差异的进一步证据。
Br J Dermatol. 2017 Apr;176(4):1086-1089. doi: 10.1111/bjd.14866. Epub 2017 Feb 7.
3
Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.皮肤活检作为诊断银发综合征工具的实用性。
Pediatr Dermatol. 2018 Nov;35(6):780-783. doi: 10.1111/pde.13624. Epub 2018 Oct 18.
4
Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.对三名埃及1型格里塞利综合征患者的基因分析揭示了MYO5A基因中新的无义突变。
Clin Exp Dermatol. 2020 Aug;45(6):789-792. doi: 10.1111/ced.14220. Epub 2020 Apr 10.
5
Boy with silvery grey hair and immunodeficiency.
J Paediatr Child Health. 2016 Apr;52(4):465. doi: 10.1111/jpc.12925.
6
Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.噬血细胞性淋巴组织细胞增生症与格里塞利综合征中的银发症
Br J Haematol. 2016 Oct;175(1):11. doi: 10.1111/bjh.14252. Epub 2016 Jul 19.
7
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.教学神经影像：格雷西里综合征和中枢神经系统淋巴组织细胞增生症。
Neurology. 2014 Apr 8;82(14):e122-3. doi: 10.1212/WNL.0000000000000288.
8
Diagnostic and therapeutic caveats in Griscelli syndrome.格雷塞利综合征的诊断和治疗注意事项。
Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20.
9
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.先天性色素减退性疾病伴多器官损害：病例报告及灰发综合征概述。
Medicina (Kaunas). 2019 Mar 25;55(3):78. doi: 10.3390/medicina55030078.
10
[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].[噬血细胞综合征揭示2型格里塞利综合征]
Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):461-4. doi: 10.1684/abc.2013.0860.
Zotero 插件