Is MED13L-related intellectual disability a recognizable syndrome?-Reference-Cited by-同舟云学术

Is MED13L-related intellectual disability a recognizable syndrome?

Published:2019-02 Issue:2 Volume:62 Page:129-136
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Tørring Pernille Mathiesen,Larsen Martin Jakob,Brasch-Andersen Charlotte,Krogh Lotte Nylandsted,Kibæk Maria,Laulund Lone,Illum Niels,Dunkhase-Heinl Ulrike,Wiesener Antje,Popp Bernt^ORCID,Marangi Giuseppe,Hjortshøj Tina Duelund,Ek Jakob,Vogel Ida^ORCID,Becher Naja,Roos Laura,Zollino Marcella^ORCID,Fagerberg Christina Ringmann

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference27 articles.

1. Redefining the MED13L syndrome;Adegbola;Eur. J. Hum. Genet.,2015

2. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability;Asadollahi;Eur. J. Hum. Genet.,2013

3. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation;Asadollahi;Eur. J. Med.,2017

4. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome;Cafiero;Eur. J. Hum. Genet.,2015

5. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?;Caro-Llopis;Pediatr. Res.,2016

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2. Splice site variants in the canonical donor site ofMED13Lexon 7 lead to intron retention in patients withMED13Lsyndrome;Journal of Medical Genetics;2024-08-24

3. Refugee and asylum‐seeker children and health problems in the city of Duzce, Türkiye;Child: Care, Health and Development;2024-06-26

4. Mediator complex in neurological disease;Life Sciences;2023-09

5. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders;Brain;2023-07-30