Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
19/10/2012
19/10/2012
2008
|
| Identificador |
CLINICAL DYSMORPHOLOGY, v.17, n.3, p.225-226, 2008 0962-8827 |
| Idioma(s) |
eng |
| Publicador |
LIPPINCOTT WILLIAMS & WILKINS |
| Relação |
Clinical Dysmorphology |
| Direitos |
closedAccess Copyright LIPPINCOTT WILLIAMS & WILKINS |
| Palavras-Chave | #SCHMID METAPHYSEAL CHONDRODYSPLASIA #MUTATIONS #SPECTRUM #Genetics & Heredity |
| Tipo |
article original article publishedVersion |