Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report

PURPOSE: To retrospectively report a case of Weill-Marchesani syndrome 4 (WMS4) with compound heterozygous variants of ADAMTS17 gene. OBSERVATIONS: The patient was a 7-year-old boy with progressively worsening eyesight and intermittent elevated intraocular pressure (IOP) for two years. His IOPs were...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Xiaowei, Kline, Brad, Han, Ying, Gao, Yan, Fan, Zhigang, Shi, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046107/
https://www.ncbi.nlm.nih.gov/pubmed/35496767
http://dx.doi.org/10.1016/j.ajoc.2022.101541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046107/
https://www.ncbi.nlm.nih.gov/pubmed/35496767
http://dx.doi.org/10.1016/j.ajoc.2022.101541

Ejemplares similares