Associated Papers
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R et al.
Journal of Inherited Metabolic Disease, 2011
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