Cerebral small vessel disease caused by PLOD3 mutation: Expanding the phenotypic spectrum of lysyl hydroxylase‐3 deficiency

INTRODUCTION: Pathogenic variants in PLOD3, encoding lysyl hydroxylase‐3 (LH3), can cause a hereditary connective tissue disorder that has rarely been reported. It is a multi‐system disease, presenting with craniofacial dysmorphisms, skeletal and eye manifestations, sensorineural hearing loss, and v...

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Detalles Bibliográficos
Autores principales: Zhou, Ji, Feng, Weixing, Zhuo, Xiuwei, Lu, Wenting, Wang, Junling, Fang, Fang, Wang, Xiaohui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523809/
https://www.ncbi.nlm.nih.gov/pubmed/36203519
http://dx.doi.org/10.1002/ped4.12328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523809/
https://www.ncbi.nlm.nih.gov/pubmed/36203519
http://dx.doi.org/10.1002/ped4.12328

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