BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion by Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski

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3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis by Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya

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Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review by Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

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Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia by Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann

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