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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
Venugopal, Parvathy; Gagliardi, Lucia; Forsyth, Cecily; Feng, Jinghua; Phillips, Kerry; Babic, Milena; Poplawski, Nicola K; Rienhoff, Hugh Young; Schreiber, Andreas W; Hahn, Christopher N; Brown, Anna L; Scott, Hamish S.
Afiliación
  • Venugopal P; Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
  • Gagliardi L; Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Forsyth C; Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
  • Feng J; Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Phillips K; School of Medicine, University of Adelaide, Adelaide, Australia.
  • Babic M; Endocrine and Diabetes Unit, The Queen Elizabeth Hospital, Woodville South, Australia.
  • Poplawski NK; Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia.
  • Rienhoff HY; Jarrett Street Specialist Centre, Gosford, Australia.
  • Schreiber AW; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, PO Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia.
  • Hahn CN; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, Australia.
  • Brown AL; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.
  • Scott HS; Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
BMC Med Genet ; 21(1): 35, 2020 02 17.
Article en En | MEDLINE | ID: mdl-32066420
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Cadenas Pesadas de Miosina / Proteínas de Unión al ADN / Síndromes Congénitos de Insuficiencia de la Médula Ósea / Pérdida Auditiva Sensorineural / Neutropenia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Cadenas Pesadas de Miosina / Proteínas de Unión al ADN / Síndromes Congénitos de Insuficiencia de la Médula Ósea / Pérdida Auditiva Sensorineural / Neutropenia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia