Work

Overgrowth Syndromes

Year: 2015

Type: article

Abstract: Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci.

Source: Journal of Pediatric Genetics

DOI: 10.1055/s-0035-1564440

Authors: Andrew Edmondson, Jennifer Kalish

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2553641168

FWCI: 5.041

Cites: 59

Cited by: 77

Related to: 10