Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.

Travan, Laura; Naviglio, Samuele; De Cunto, Angela; Pellegrin, Andrea; Pecile, Vanna; Spinelli, Alessandro Mauro; Cappellani, Stefania; Faletra, Flavio

Travan, Laura; Naviglio, Samuele; De Cunto, Angela; Pellegrin, Andrea; Pecile, Vanna; Spinelli, Alessandro Mauro; Cappellani, Stefania; Faletra, Flavio.

Afiliación

Travan L; Department of Perinatal Medicine, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Naviglio S; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
De Cunto A; Department of Perinatal Medicine, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Pellegrin A; Department of Pediatric Radiology, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Pecile V; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Spinelli AM; University of Padua, Padua, Italy.
Cappellani S; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Faletra F; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

Am J Med Genet A ; 173(7): 1970-1974, 2017 Jul.

Article en En | MEDLINE | ID: mdl-28411391

Palabras clave

19q13.32; SNPs array; copy number variation; developmental delay; microdeletion

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

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