Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype
Copyright policy ) Ilayda Akyon; Ozgenur Ozen; Mustafa Dogan; Zafer Turkoglu; Dilay Bastug; Fatmagul Kusku Cabuk; Alper Gezdirici;
Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype
ABSTRACT Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3‐year‐old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype–phenotype correlation in the ANTXR2 gene and HFS.
Male, Phenotype, Receptors, Peptide, Child, Preschool, Mutation, Humans, Hyaline Fibromatosis Syndrome
Male, Phenotype, Receptors, Peptide, Child, Preschool, Mutation, Humans, Hyaline Fibromatosis Syndrome
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