Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing-Reference-Cited by-同舟云学术

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Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

Published:2021-09-24 Issue:1 Volume:188 Page:298-303
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

McDermott Helen¹^ORCID,Robinson Hannah K.²,Caswell Richard³^ORCID,Gowda Harsha⁴^ORCID,Offiah Amaka⁵^ORCID,Naik Swati¹

Affiliation:

1. Clinical Genetics Department Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

2. Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK

3. Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK

4. Birmingham Heartlands Neonatal Unit University Hospitals Birmingham NHS Foundation Trust Birmingham UK

5. Department of Oncology and Metabolism University of Sheffield Sheffield UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62499

Reference22 articles.

1. Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum

2. Robinow syndrome: Phenotypic variability in a family with a novel intragenicROR2mutation

3. DISULFIND: a disulfide bonding state and cysteine connectivity prediction server

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