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

Abstract 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....

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Autores principales:	Yunqian Zhu, Xiaonan Du, Li Sun, Huijun Wang, Dahui Wang, Bingbing Wu
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2022-08-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	ANTXR2 hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis
Acceso en línea:	https://doi.org/10.1002/mgg3.1993
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