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Article

Aarskog-scott syndrome (AAS): a case report.

European journal of paediatric dentistry - 1 Sept 2023

Braiotta F, Paglia M, Mummolo S

Abstract excerpt

BACKGROUND: Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short stature. Clinical diagnosis is based on physical examination and the presence of the most characteristic clinical signs. The diagnosis can be finally confirmed by molecular tests, which identify mutations in the FGD1 gene. CASE...

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Identifiers

PMID: 37337880
DOI: 10.23804/ejpd.2023.1953

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