title: Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.forename: Ciğdem
authors.initials: C
authors.lastname: Kasapkara
authors.forename: Kenneth
authors.initials: K
authors.lastname: Fong
authors.forename: Ayse
authors.initials: A
authors.lastname: Serdaroğlu
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics*; D007223:Infant; D020125:Mutation, Missense; D018000:Receptors, Peptide / Q000235:genetics*
chemical_list: C447150:ANTXR2 protein, human; D018000:Receptors, Peptide