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References from Progressive Microcephaly in a Term Neonate. Local targets link to admitted publications; unresolved targets remain external evidence.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
10.1136/jmedgenet-2014-102952 · 2015 · External reference
Neonatal presentations of congenital disorders of glycosylation
10.1542/neo.18-4-e234 · 2017 · External reference
Asparagine synthetase deficiency-report of a novel mutation and review of literature
10.1007/s11011-017-0073-6 · 2017 · External reference
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease
10.1016/j.mad.2016.04.009 · 2017 · External reference
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
10.1038/ng.526 · 2010 · External reference
Seckel syndrome
2021 · External reference
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings
2001 · External reference
