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

Zhu, Yunqian; Du, Xiaonan; Sun, Li; Wang, Huijun; Wang, Dahui; Wu, Bingbing

Zhu, Yunqian; Du, Xiaonan; Sun, Li; Wang, Huijun; Wang, Dahui; Wu, Bingbing.

Afiliación

Zhu Y; Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
Du X; Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
Sun L; Department of Rheumatism, Children's Hospital of Fudan University, Shanghai, China.
Wang H; Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.
Wang D; Department of Orthopedics, Children's Hospital of Fudan University, Shanghai, China.
Wu B; Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.

Mol Genet Genomic Med ; 10(8): e1993, 2022 08.

Article en En | MEDLINE | ID: mdl-35726349

Asunto(s)

Síndrome de Fibromatosis Hialina; Diarrea; Mutación del Sistema de Lectura; Humanos; Síndrome de Fibromatosis Hialina/genética; Masculino; Mutación; Receptores de Péptidos/genética

Palabras clave

ANTXR2; hyaline fibromatosis syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Fibromatosis Hialina Límite: Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

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