A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome-Reference-Cited by-同舟云学术

A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome

Published:2020-04 Issue:4 Volume:63 Page:103854
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Permanyer Eduard,Laurie Steven,Blasco-Lucas Arnau,Maldonado Giuliana,Amador-Catalan Amaya,Ferrer-Curriu Gemma,Fuste Berta,Perez Maria L.,Gonzalez-Alujas Teresa,Beltran Sergi,Comas-Riu Jaume,Bardají Alfredo,Evangelista Artur,Galiñanes Manuel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference40 articles.

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3. TAK1-dependent signaling requires functional interaction with TAB2/TAB3;Besse;J. Biol. Chem.,2007

4. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears;Caselli;Eur. J. Med. Genet.,2007

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2. Expanding the phenotype of TAB2 variants and literature review;American Journal of Medical Genetics Part A;2022-08-16

3. There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome;Gene;2022-03

4. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases;Human Mutation;2022-02-17

5. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement;Genetics in Medicine;2022-02