A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndrome-Reference-Cited by-同舟云学术

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

Published:2022-08-10 Issue:5 Volume:43 Page:720-723
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ansar Muhammad¹²³^ORCID,Javed Samra⁴,Baig Hafiz Muhammad Azhar¹²⁵^ORCID,Quinodoz Mathieu¹²⁶^ORCID,Ullah Mukhtar¹²^ORCID,Han Ji Hoon¹²,Rahim Muhammad Usama⁷,Kausar Humera⁴,Calzetti Giacomo¹²^ORCID,Rivolta Carlo¹²⁶^ORCID

Affiliation:

1. Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

2. Department of Ophthalmology, University of Basel, Basel, Switzerland

3. Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan

4. Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan

5. Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur, Pakistan

6. Department of Genetics and Genome Biology, University of Leicester, Leicester, UK

7. Laser Vision Centre, Lahore, Pakistan

Funder

Diana Davis Spencer Clinical Research Fellowship Award from the Foundation Fighting Blindness

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2096242

Reference15 articles.

1. Characterization of the Homeobox-Containing Gene GH6 Identifies Novel Regions of Homeobox Gene Expression in the Developing Chick Embryo

2. Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

3. Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

4. Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

5. Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation