“Gestalt diagnosis” for children with suspected genetic syndromes

Author:

Cianci Paola,Selicorni Angelo

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference14 articles.

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2. Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A: Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat. 2013, 34: 1589-1596. 10.1002/humu.22430.

3. Sukarova-Angelovska E, Kocova M, Sabolich V, Palcevska S, Angelkova N: Phenotypic variations in Wolf-Hirschhorn syndrome. Balkan J Med Genet. 2014, 11: 23-30.

4. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD: Noonan syndrome: the changing phenotype. Am J Med Genet. 1985, 21: 507-514. 10.1002/ajmg.1320210313.

5. Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, et al: Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr. 2015, 20: 41-44.

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