关于波拉等人的《MED12中的新生变异导致18名女性患X连锁综合征性神经发育障碍》的通信 - Suppr

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

作者信息

Riccardi Florence, Astier Alexandre, Grisval Margot, Maillard Arnaud, Michaud Vincent, Badens Catherine, Gordon Christopher T, Trimouille Aurélien, Faivre Laurence, Amiel Jeanne, Sigaudy Sabine, Gorokhova Svetlana

机构信息

Centre de Référence Anomalies du développement et syndromes malformatifs Sud-Est PACA, Département de Génétique Médicale, APHM, Marseille, France.

Aix Marseille Université, MMG, Inserm, Marseille, France.

出版信息

Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.

DOI:10.1038/s41436-021-01208-8

PMID:34079076

Abstract

摘要

相似文献

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27.

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16.

MED12 related disorders.

Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatr Res. 2016 Dec;80(6):809-815. doi: 10.1038/pr.2016.162. Epub 2016 Aug 8.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7.

Hum Mol Genet. 2017 Jun 1;26(11):2062-2075. doi: 10.1093/hmg/ddx099.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

引用本文的文献

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Am J Med Genet A. 2025 Jan;197(1):e63868. doi: 10.1002/ajmg.a.63868. Epub 2024 Aug 30.

本文引用的文献

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27.

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Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

作者信息

机构信息

Centre de Référence Anomalies du développement et syndromes malformatifs Sud-Est PACA, Département de Génétique Médicale, APHM, Marseille, France.

Aix Marseille Université, MMG, Inserm, Marseille, France.

出版信息

Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.

DOI:10.1038/s41436-021-01208-8

PMID:34079076

Abstract

摘要

相似文献

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27.

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16.

MED12 related disorders.

Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatr Res. 2016 Dec;80(6):809-815. doi: 10.1038/pr.2016.162. Epub 2016 Aug 8.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7.

Hum Mol Genet. 2017 Jun 1;26(11):2062-2075. doi: 10.1093/hmg/ddx099.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

引用本文的文献

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Am J Med Genet A. 2025 Jan;197(1):e63868. doi: 10.1002/ajmg.a.63868. Epub 2024 Aug 30.

本文引用的文献

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27.

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

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Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

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