Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
Zechi-Ceide
Roseli Maria
RM
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru Human Genome Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Jesus Oliveira
Nélio Alessando
NA
Guion-Almeida
Maria Leine
ML
Antunes
Luís Fernando B B
LFBB
Richieri-Costa
Antonio
A
Passos-Bueno
Maria Rita Santos
MRS
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D019943:Amino Acid Substitution; D002648:Child; D024043:Collagen Type II / Q000235:genetics*; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D021382:Protein Sorting Signals / Q000235:genetics; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging
C499177:COL2A1 protein, human; D024043:Collagen Type II; D021382:Protein Sorting Signals