The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide by M Dercksen, E H Conradie, C J Hendriksz, H Malherbe, B C Vorster

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Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases by Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi

Subjects: “…Rare disease…”
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Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes by XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan

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The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review by M C M Gomes, H L Malherbe

Subjects: “…rare diseases…”
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Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

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