Novel variant of KIF11 associated with MCLMR syndrome
Author:
Affiliation:
1. Pediatric Ophthalmology and Strabismus Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Funder
funding
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2113540
Reference10 articles.
1. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
2. Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
3. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
4. Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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