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Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.

Congenital anomalies - 1 Jul 2021

Chaudhry Chakshu, Kaur Parminder, Srivastava Priyanka, Panigrahi Inusha, Kaur Anupriya

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PMID: 33724566
DOI: 10.1111/cga.12414

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Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.PMID 33724566Read ↗

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Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.Semantic proximity Read ↗

[Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis].Semantic proximity Read ↗

Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype.Semantic proximity Read ↗

Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.Semantic proximity Read ↗

[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].Semantic proximity Read ↗

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

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.Semantic proximity Read ↗

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.Semantic proximity Read ↗

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.Semantic proximity Read ↗

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