Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
Cleft Palate Craniofac J
; 39(2): 246-8, 2002 Mar.
Article
em En
| MEDLINE
| ID: mdl-11879084
ABSTRACT
OBJECTIVE:
A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented. RESULTS ANDCONCLUSIONS:
Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including hearing loss and acanthosis nigricans. Abnormal urinary excretion of dicarboxylic acids and 3-hydroxydicarboxylic acids was observed. We hypothesize that this was a consequence of the FGFR3 mutation.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Displasia Tanatofórica
/
Proteínas Tirosina Quinases
/
Ácidos Dicarboxílicos
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article