Novel mutation-deletion in the <i>PHOX2B</i> gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.

Szymonska, Izabela; Borgenvik, Thore Langfeldt; Karlsvik, Tina Margrethe; Halsen, Anders; Malecki, Bianka Kathryn; Saetre, Sindre Ervik; Jagla, Mateusz; Kruczek, Piotr; Talowska, Anna Madetko; Drabik, Grazyna; Zasada, Magdalena; Malecki, Marek

Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.

Szymonska, Izabela; Borgenvik, Thore Langfeldt; Karlsvik, Tina Margrethe; Halsen, Anders; Malecki, Bianka Kathryn; Saetre, Sindre Ervik; Jagla, Mateusz; Kruczek, Piotr; Talowska, Anna Madetko; Drabik, Grazyna; Zasada, Magdalena; Malecki, Marek.

Afiliação

Szymonska I; Department of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, EU.
Borgenvik TL; Jagiellonian University Medical College, Krakow, Poland, EU.
Karlsvik TM; Jagiellonian University Medical College, Krakow, Poland, EU.
Halsen A; Jagiellonian University Medical College, Krakow, Poland, EU.
Malecki BK; Jagiellonian University Medical College, Krakow, Poland, EU; Phoenix Biomolecular Engineering Foundation, San Francisco, CA, USA.
Saetre SE; Jagiellonian University Medical College, Krakow, Poland, EU.
Jagla M; Department of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, EU.
Kruczek P; Department of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, EU.
Talowska AM; Department of Clinical Genetics, Jagiellonian University Medical College, Krakow, Poland, EU.
Drabik G; Department of Pathology, Children's University Hospital, Kraków, Poland, EU.
Zasada M; Department of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, EU.
Malecki M; Phoenix Biomolecular Engineering Foundation, San Francisco, CA, USA; NMRFM, National Institutes of Health, Madison, WI, USA; University of Wisconsin, Madison, WI, USA.

J Genet Syndr Gene Ther ; 6(3)2015 Dec.

Article em En | MEDLINE | ID: mdl-26798564

Palavras-chave

4p12; Aganglionosis of the Terminal Bowel (ATB); Congenital Central Hypoventilation Syndrome (CCHS); Haddad syndrome; Hirschsprung's disease (HSCR); NB-HSCR-CCHS; Neuroblastoma (NB); Neurocristopathy; PHOX2B; SOX10; deletion; mutation

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Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: J Genet Syndr Gene Ther Ano de publicação: 2015 Tipo de documento: Article

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