A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
Mol Syndromol
; 6(5): 254-8, 2016 Feb.
Article
em En
| MEDLINE
| ID: mdl-26997947
ABSTRACT
Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Mol Syndromol
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Reino Unido