Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

FJ van Spronsen, N Himmelreich… - Journal of medical …, 2018 - jmg.bmj.com
Background Autosomal recessive mutations in DNAJC12, encoding a cochaperone of
HSP70 with hitherto unknown function, were recently described to lead to …

Categorized genetic analysis in childhood-onset cardiomyopathy

ZN Al-Hassnan, A Almesned, S Tulbah… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the
cause of which is largely unknown. The influence of consanguinity on the genetics of …

Supplementary Materials and Methods

FJ van Spronsen, N Himmelreich, V Rüfenacht, N Shen… - jmg.bmj.com
Patient 2-A, a 25-month-old Saudi girl to a related couple from the same tribe in the Northern
region of the country, was diagnosed with HPA at the age of 14 days through NBS (blood …