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1
Mucopolysaccharidosis: A rare case from ophthalmology perspective
Published 2025-01-01Subjects: “…autosomal recessive…”
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2
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01Subjects: “…Autosomal recessive…”
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3
Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
Published 2025-02-01Subjects: Get full text
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4
Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
Published 2025-01-01Subjects: “…autosomal recessive bestrophinopathy…”
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5
Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease
Published 2025-01-01Subjects: “…autosomal recessive polycystic kidney disease…”
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Article