Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene

Clin Dysmorphol. 2008 Jul;17(3):225-226. doi: 10.1097/MCD.0b013e3282fe1b8e.

Authors

Roseli Maria Zechi-Ceide¹, Nélio Alessando Jesus Oliveira, Maria Leine Guion-Almeida, Luís Fernando B B Antunes, Antonio Richieri-Costa, Maria Rita Santos Passos-Bueno

Affiliation

¹ 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.

PMID: 18541977
DOI: 10.1097/MCD.0b013e3282fe1b8e

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology*
Amino Acid Substitution
Child
Collagen Type II / genetics*
Coloboma / genetics*
Coloboma / pathology
Developmental Disabilities / genetics
Developmental Disabilities / pathology
Face / abnormalities
Female
Humans
Phenotype
Point Mutation
Protein Sorting Signals / genetics
Radiography
Spine / abnormalities
Spine / diagnostic imaging

Substances

COL2A1 protein, human
Collagen Type II
Protein Sorting Signals