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 |
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Data(s) |
19/10/2012
19/10/2012
2008
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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 |