Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
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.
Roseli Maria
RM
Zechi-Ceide
Nélio Alessando
NA
Jesus Oliveira
Maria Leine
ML
Guion-Almeida
Luís Fernando B B
LFBB
Antunes
Antonio
A
Richieri-Costa
Maria Rita Santos
MRS
Passos-Bueno
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