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方丹早老样综合征——病例报告

Fontaine progeroid syndrome-A case report.

作者信息

Lally Sinéad, Walsh Nicola, Kenny Janna, Franklin Orla, Cotter Melanie, Richardson Sarah, McEligott Fiona, Finan Alan

机构信息

Department of Paediatrics Cavan Monaghan Hospital, RCSI Hospital Group Cavan Ireland.

Department of Clinical Genetics Children's Health Ireland at Crumlin Dublin 12 Ireland.

出版信息

Clin Case Rep. 2022 Sep 6;10(9):e6291. doi: 10.1002/ccr3.6291. eCollection 2022 Sep.

DOI:10.1002/ccr3.6291
PMID:36093452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9448962/
Abstract

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

摘要

方丹早老样综合征（FPS）是一种常染色体显性疾病，由SLC25A24基因的致病性变异引起。文献中已描述了11例病例，其中一些病例存在早期致死情况。我们讨论了一名患者从出生到7个月死亡的临床病程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c91/9448962/436f028d08db/CCR3-10-e6291-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c91/9448962/6e56598964d6/CCR3-10-e6291-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c91/9448962/436f028d08db/CCR3-10-e6291-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c91/9448962/6e56598964d6/CCR3-10-e6291-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c91/9448962/436f028d08db/CCR3-10-e6291-g001.jpg

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Diseases Caused by Mutations in Mitochondrial Carrier Genes : A Review.线粒体载体基因突变导致的疾病：综述。
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A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.一名 9 岁韩国女童患 Fontaine progeroid 综合征：一例病例报告，并进一步明确表型及长期随访期间的临床病程描述。
BMC Med Genet. 2019 Nov 27;20(1):188. doi: 10.1186/s12881-019-0921-9.
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Am J Hum Genet. 2017 Nov 2;101(5):844-855. doi: 10.1016/j.ajhg.2017.09.017.
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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.SLC25A24基因的新生突变导致一种伴有多毛症、早老样外貌和线粒体功能障碍的颅缝早闭综合征。
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