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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |