title: Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, Pennsylvania, USA.
authors.forename: Leila
authors.initials: L
authors.lastname: Youssefian
authors.forename: Hassan
authors.initials: H
authors.lastname: Vahidnezhad
authors.forename: Yahya
authors.initials: Y
authors.lastname: Aghighi
authors.forename: Vahid
authors.initials: V
authors.lastname: Ziaee
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.forename: Maryam
authors.initials: M
authors.lastname: Abiri
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D003241:Consanguinity; D005260:Female; D006239:Haplotypes; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018000:Receptors, Peptide / Q000235:genetics*; D013577:Syndrome
chemical_list: C447150:ANTXR2 protein, human; D018000:Receptors, Peptide