PIGO基因变异：产前诊断的新见解 - Suppr

PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

作者信息

Zambiasi A, Aziza J, Chassaing N, Lebrun M, Sartor A, Langeois M, Dubucs C

机构信息

Département d'Anatomie et de Cytologie Pathologiques, Centre Hospitalier Universitaire de Toulouse Pole IUC Toulouse Oncopole CHU, Toulouse, France.

Service de Génétique Médicale, Hôpital Purpan, Centre Hospitalier Universitaire de Toulouse Pole de biologie, Toulouse, France.

出版信息

Prenat Diagn. 2025 Jul;45(8):1058-1062. doi: 10.1002/pd.6825. Epub 2025 Jun 13.

DOI:10.1002/pd.6825

PMID:40514788

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12254430/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee6/12254430/585387ba3686/PD-45-1058-g001.jpg

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[French Genomic Medicine Plan 2025 (PFMG2025): France enters the era of genomic medicine].[2025年法国基因组医学计划（PFMG2025）：法国迈入基因组医学时代]

Rev Prat. 2021 Dec;71(10):1061-1064.

The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.人类疾病中的糖基磷脂酰肌醇生物合成途径。

Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z.

Eur J Med Genet. 2020 Apr;63(4):103802. doi: 10.1016/j.ejmg.2019.103802. Epub 2019 Nov 5.

PIGO deficiency: palmoplantar keratoderma and novel mutations.PIGO缺乏症：掌跖角化病及新突变

Orphanet J Rare Dis. 2017 May 25;12(1):101. doi: 10.1186/s13023-017-0654-9.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

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PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

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