Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report-Reference-Cited by-同舟云学术

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report

Published:2019-05-15 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Brittain Helen K.¹²^ORCID,Feary Johanna³,Rosenthal Mark⁴,Spoudeas Helen⁵,Wilson Louise C.¹,

Affiliation:

1. Department of Clinical Genetics, North East Thames Regional Genetics ServiceGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

2. Clinical Genetics UnitBirmingham Women's & Children's Hospital NHS Foundation Trust Birmingham UK

3. Department of Occupational & Environmental MedicineRoyal Brompton & Harefield NHS Foundation Trust London UK

4. Department of Paediatric Respiratory MedicineRoyal Brompton & Harefield NHS Foundation Trust London UK

5. Department of EndocrinologyGreat Ormond Street Hospital for Children NHS Foundation Trust & University College Hospital London UK

Funder

Wellcome Sanger Institute

Health Innovation Challenge Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61169

Reference3 articles.

1. The E3 ligase Itch in immune regulation and beyond;Aki D.;Immunological Reviews,2015

2. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease;Lohr N. J.;American Journal of Human Genetics,2010

3. Ubiquitination in disease pathogenesis and treatment;Popovic D.;Nature Medicine,2014

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