Additional file 1: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Molecular investigations. The file describes the method used in isolation of genomic DNA, NGS and bioinformatics tools used during analysis. (DOCX 16 kb

Additional file 3: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Homology modeling, structure validation and protein stability due to c.1228T>A (p.Ser410Thr) variant. File describes the influence of variant change on the protein structure (DOCX 16 kb

Additional file 5: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Population screening for c.1228T>A (p.Ser410Thr) variant by ARMS-PCR. The file provides details of normal healthy individuals studied for variant (c.1228T>A (p.Ser410Thr)) by ARMS-PCR. (DOCX 15 kb

Additional file 2: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Sanger sequencing (Variant Confirmation Test). It describes the details of primer’s used during Sanger sequencing of the proband and parents (DOCX 15 kb

Additional file 4: of A case of Raine syndrome presenting with facial dysmorphy and review of literature

Conservation of the FAM20C p.Ser410Thr residue in orthologs. Conservation of the variant in orthologs and Homo sapiens. (DOCX 15 kb