Mucopolysaccharidosis: A rare case from ophthalmology perspective by Santosh Singh Patel, Rajesh Kumar Sahu, Reshu Malhotra, Anju Bhaskar, A. K. Chandrakar

Subjects: “…autosomal recessive…”
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Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage by Aparna Thirumalaiswamy, Saloni Abhijit Desai, Atul Madhusudan Dongre, Chitra Shivanand Nayak

Subjects: “…autosomal recessive…”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

Subjects: “…Autosomal recessive…”
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Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient by Ryo Fukaura, Kana Tanahashi, Michiya Omi, Takuya Takeichi, Masashi Akiyama

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Intermediate Osteopetrosis with Hooked-Shaped Phalanges by Sangeeta Malik, Abhilash Panwar, Nagaraju Kamarthi, Sumit Goel

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Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy by Neha Goel

Subjects: “…autosomal recessive bestrophinopathy…”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

Subjects: “…autosomal recessive polycystic kidney disease…”
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Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma by Pauline Bernard, Nuria Pell, Juliette Mazereeuw-Hautier, Nathalie Jonca

Subjects: “…autosomal recessive congenital ichthyosis…”
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Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review by Lei Zhang, Gentzon Hall, Peitong Han, Chunzhen Li, Jieyuan Cui

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The Genetics of Parkinson’s Disease by Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel

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