Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review

BACKGROUND: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form—infantile systemic hyalinosis (ISH)—with long survival and review the literature. METHODS...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Yunqian, Du, Xiaonan, Sun, Li, Wang, Huijun, Wang, Dahui, Wu, Bingbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356561/
https://www.ncbi.nlm.nih.gov/pubmed/35726349
http://dx.doi.org/10.1002/mgg3.1993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356561/
https://www.ncbi.nlm.nih.gov/pubmed/35726349
http://dx.doi.org/10.1002/mgg3.1993

Ejemplares similares