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
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A et al.
International Journal of Molecular Sciences, 2017
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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