A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

Constantinou, Panayiotis; D'Alessandro, Mariella; Lochhead, Paul; Samant, Shalaka; Bisset, W Michael; Hauptfleisch, Catherine; Dean, John

Constantinou, Panayiotis; D'Alessandro, Mariella; Lochhead, Paul; Samant, Shalaka; Bisset, W Michael; Hauptfleisch, Catherine; Dean, John.

Afiliación

Constantinou P; North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
D'Alessandro M; North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
Lochhead P; North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.
Samant S; Molecular Genetics Department, University of Aberdeen, Foresterhill, UK.
Bisset WM; Department of Paediatric Gastroenterology, Royal Aberdeen Children's Hospital, Foresterhill, UK.
Hauptfleisch C; Department of Neonatology, Aberdeen Maternity Hospital, Foresterhill, UK.
Dean J; North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, UK.

Mol Syndromol ; 6(5): 254-8, 2016 Feb.

Article en En | MEDLINE | ID: mdl-26997947

Palabras clave

Cobalamin F disorder; LMBRD1 mutation

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Mol Syndromol Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google