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Clinical manifestations and oral findings in fraser syndrome
(2007-09-01)
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. ...
Clinical manifestations and oral findings in fraser syndrome
(2007-09-01)
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. ...
FG syndrome in a Brazilian child with additional previously unreported signs.
(1986-12-01)
We report on a Brazilian child with typical manifestations of the FG syndrome. Pigmentary dysplasia, metacarpal fusion and peculiar anatomopathological findings are additional undescribed signs.
Diagnóstico pré-natal de displasia camptomélica: relato de caso
(Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2008)
A displasia camptomélica pertence a um grupo heterogêneo e raro de displasias esqueléticas letais, que se caracterizam pelo desenvolvimento anormal dos ossos e das cartilagens. É causada por uma mutação no gene Sox9 (SRY-like ...
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
(Public Library of Science [Commercial Publisher], 2021)
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)