Novel variant of KIF11 associated with MCLMR syndrome

Ophthalmic Genet. 2023 Apr;44(2):205-207. doi: 10.1080/13816810.2022.2113540. Epub 2022 Aug 25.

Authors

Ghaida Alahmadi¹, Abdulaziz A Alshamrani², Amani Albakri¹

Affiliations

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.

PMID: 36004687
DOI: 10.1080/13816810.2022.2113540

No abstract available

MeSH terms

Facies
Humans
Kinesins / genetics
Lymphedema*
Microcephaly*
Retinal Dysplasia*

Substances

KIF11 protein, human
Kinesins

Supplementary concepts

Lymphedema, microcephaly and chorioretinopathy syndrome