X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing

Clin Dysmorphol. 2022 Apr 1;31(2):101-105. doi: 10.1097/MCD.0000000000000412.

Authors

Helen McDermott¹, Vidya Garikapati¹, Júlia Baptista^{2

3

4}, Harsha Gowda¹, Swati Naik⁵

Affiliations

¹ Neonatal Unit, Birmingham Heartlands, University Hospitals Birmingham NHS Foundation Trust, Birmingham.
² Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust.
³ College of Medicine and Health, University of Exeter, Exeter.
⁴ Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth.
⁵ Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

PMID: 35102032
DOI: 10.1097/MCD.0000000000000412

No abstract available

MeSH terms

Abnormalities, Multiple* / genetics
Blepharophimosis* / genetics
Exome / genetics
Exome Sequencing
Humans
Intellectual Disability* / genetics
Mediator Complex / genetics
Mediator Complex / metabolism
Mutation

Substances

MED12 protein, human
Mediator Complex