Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”-Reference-Cited by-同舟云学术

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

Published:2020-10-16 Issue:1 Volume:185 Page:105-111
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Withers Chelsea M.¹,Fleming Jane²,Wallingford Courtney K.³⁴,Gabbett Michael T.⁵,Peterson Madelyn⁶,Humphreys Linda⁷,McInerney‐Leo Aideen³^ORCID

Affiliation:

1. Tasman Oncology Research Southport Queensland Australia

2. Department of Clinical Genetics Royal North Shore Hospital St Leonards New South Wales Australia

3. The University of Queensland Diamantina Institute The University of Queensland Woolloongabba Queensland Australia

4. Graduate School of Health University of Technology Sydney Sydney New South Wales Australia

5. School of Biomedical Sciences & Institute of Health and Biomedical Innovation Queensland University of Technology (QUT) Kelvin Grove Queensland Australia

6. Griffith University Biomolecular and Physical Sciences Nathan Queensland Australia

7. School of Medicine Griffith University Southport Queensland Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61920

Reference47 articles.

1. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

2. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

3. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

4. Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare System

5. Diagnostic Clinical Genome and Exome Sequencing

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