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pro vyhledávání: '"Catherine Hauptfleisch"'
Autor:
Shalaka Samant, Panayiotis Constantinou, John Dean, Paul Lochhead, Mariella D'Alessandro, W. Michael Bisset, Catherine Hauptfleisch
Publikováno v:
Molecular Syndromology
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 ha