Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants

Clin Dysmorphol. 2024 Jan 1;33(1):38-42. doi: 10.1097/MCD.0000000000000478. Epub 2023 Nov 14.

Authors

Kerra M Templeton¹, Louise Thompson², Edward S Tobias^{1

3}, S Faisal Ahmed⁴, Ruth McGowan¹

Affiliations

¹ West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow.
² South East of Scotland Genetics Service, Western General Hospital, Edinburgh.
³ Academic Unit of Medical Genetics and Clinical Pathology, University of Glasgow, Queen Elizabeth University Hospital.
⁴ Child Health, School of Medicine, Dentistry and Nursing Studies, University of Glasgow, Royal Hospital for Children, Glasgow, UK.

PMID: 38038056
DOI: 10.1097/MCD.0000000000000478

No abstract available

MeSH terms

Coloboma* / diagnosis
Coloboma* / genetics
Humans
Pedigree
Phenotype
Transcription Factors / genetics
Ubiquitin-Protein Ligases* / genetics

Substances

RLIM protein, human
Transcription Factors
Ubiquitin-Protein Ligases

Grants and funding

74250/1/Scottish Executive Health Department