Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

doi:10.1002/ajmg.a.62068

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Article

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

American journal of medical genetics. Part A - 1 Apr 2021

Tedesco Maria Giovanna, Lonardo Fortunato, Ceccarini Caterina, Cesarano Carla, Digilio Maria Cristina, Magliozzi Monia, Rogaia Daniela, Mencarelli Amedea, Leoni Chiara, Piscopo Carmelo, Imperatore Valentina, Falco Maria Teresa, Fontana Paolo, Nardone Anna Maria, Novelli Antonio, Troiani Stefania, Seri Marco, Prontera Paolo

Abstract excerpt

Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brachymesophalangy, hypoplastic thumbs, as well as syndactyly of toes, variably associated with organ abnormalities, the most common being gastrointestinal atresia. In...

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PMID: 33442900
DOI: 10.1002/ajmg.a.62068

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