Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al

Marina Kossmann Ferraz¹, Ana Carolina Esposito², Cláudio Schmidt³, Maria Angélica Lima², Fernando Regla Vargas⁴

Affiliations

¹ Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil; D'Or Institute of Research and Education (IDOR), Rio de Janeiro, Brazil.
² Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
³ Centro de Genética Médica do Rio de Janeiro, Rio de Janeiro, Brazil.
⁴ Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil; Birth Defects Epidemiology Laboratory, Oswaldo Cruz Institute, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil. Electronic address: fernando.vargas@ioc.fiocruz.br.

PMID: 35920825
DOI: 10.1016/j.gim.2022.05.019

Free article

Comment

Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al

Marina Kossmann Ferraz et al. Genet Med. 2022 Oct.

Free article

. 2022 Oct;24(10):2204-2205.

doi: 10.1016/j.gim.2022.05.019. Epub 2022 Aug 4.

Authors

Marina Kossmann Ferraz¹, Ana Carolina Esposito², Cláudio Schmidt³, Maria Angélica Lima², Fernando Regla Vargas⁴

Affiliations

¹ Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil; D'Or Institute of Research and Education (IDOR), Rio de Janeiro, Brazil.
² Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
³ Centro de Genética Médica do Rio de Janeiro, Rio de Janeiro, Brazil.
⁴ Medical Genetics Service, Gaffrée and Guinle University Hospital, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil; Birth Defects Epidemiology Laboratory, Oswaldo Cruz Institute, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil. Electronic address: fernando.vargas@ioc.fiocruz.br.

PMID: 35920825
DOI: 10.1016/j.gim.2022.05.019

No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest The authors declare no conflicts of interest.

Comment on

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Nizon M, et al. Genet Med. 2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. Genet Med. 2019. PMID: 31155615 Free PMC article.

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions

Substances

Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al

Affiliations

Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al

Authors

Affiliations

Conflict of interest statement

Comment on

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources