Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature-Reference-Cited by-同舟云学术

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature

Published:2021-11 Issue:11 Volume:64 Page:104323
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Lesieur-Sebellin Marion^ORCID,Capri Yline,Grisval Margot,Courtin Thomas^ORCID,Burtz Augustine,Thevenon Julien,Buratti Julien^ORCID,Lejeune Elodie,Faivre Laurence,Keren Boris

Funder

Assistance Publique - Hôpitaux de Paris

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference9 articles.

1. The C terminus of the RNA polymerase II transcription factor IID (TFIID) subunit Taf2 mediates stable Association of subunit Taf14 into the yeast TFIID complex;Feigerle;J. Biol. Chem.,2016

2. Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12;Halevy;Pediatr. Neurol.,2012

3. Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2;Hellman-Aharony;Pediatr. Neurol.,2013

4. CIF150, a human cofactor for transcription factor IID-dependent initiator function;Kaufmann;Mol. Cell Biol.,1998

5. Structure of promoter-bound TFIID and model of human pre-initiation complex assembly;Louder;Nature,2016

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5. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort;Archives of Iranian Medicine;2023-04-01