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The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease.
Quantifying the burden of hereditary hemorrhagic telangiectasia on quality of life and psychological health: a cross-sectional study.
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study.
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.