Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review-Reference-Cited by-同舟云学术

Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review

Published:2021-02-27 Issue:5 Volume:185 Page:1569-1574
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Meira Joanna Goes Castro¹²^ORCID,Magalhães Bruna Souza¹^ORCID,Ferreira Isabella Brige Bonifácio¹^ORCID,Tavares Dione Fernandes²^ORCID,Kobayashi Gerson Shigeru³^ORCID,Leão Emília Katiane E. A.¹²^ORCID

Affiliation:

1. Department of Life Sciences Universidade do Estado da Bahia—UNEB Salvador Brazil

2. Department of Medical Genetics Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia—UFBA Salvador Brazil

3. Human Genome and Stem Cell Research Center Biosciences Institute, University of São Paulo São Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62141

Reference15 articles.

1. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

2. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

3. Challenges in molecular diagnosis of X‐linked intellectual disability;De Luca C.;British Medical Bulletin,2020

4. Prevalence and architecture of de novo mutations in developmental disorders

5. FAM/USP9x, a Deubiquitinating Enzyme Essential for TGFβ Signaling, Controls Smad4 Monoubiquitination

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