Coloboma in a family with Tonne-Kalsheuer syndrome: extending the phenotype of RLIM variants-Reference-Cited by-同舟云学术

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

Published:2023-11-14 Issue:1 Volume:33 Page:38-42
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Templeton Kerra M.¹,Thompson Louise²,Tobias Edward S.¹³,Ahmed S. Faisal⁴,McGowan Ruth¹

Affiliation:

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

Funder

Scottish Executive Health Department

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex.;Bach;Nat Genet,1999

2. RNF12 X-linked intellectual disability mutations disrupt e3 ligase activity and neural differentiation.;Bustos;Cell Rep,2018

3. Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome.;Bustos;Life Sci Alliance,2022

4. Transcription factor genes and the developing eye: a genetic perspective.;Freund;Hum Mol Genet,1996

5. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.;Frints;Mol Psychiatry,2019

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