Severe skeletal dysplasia caused by a novel FLNB gene mutationIchchha Madan, Frank Jackson, Simran Sahni, Reinaldo Figueroa
7 March 2024
Familial visceral branch artery aneurysms in Loeys-Dietz syndromeMichelle S Lim, Kacie Steinbrecher, Andrew W Koefoed, Alan C Braverman
10 January 2024
Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing revealsInês Hilário Soldin, Ana Ferro, Yuliana O Eremina, Mário Sérgio Nascimento Bibi
9 January 2024
Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implicationsFeifei Hou, Tianyu Zhang, Fangman Chen, Lu Jiang
28 December 2023
Lipoid proteinosis; a rare pathology, requiring multidisciplinary inputMatthew Thomas Fenech, Damien Yeo
6 November 2023
Osteogenesis imperfecta type VIII: highlighting the need for genetic testingHaika Mariki, Kandi Muze, Fatima Mussa, Karim Premji Manji
12 July 2023
Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemiaShiva Barforoshi, Jenica Thangathurai, Houman Khakpour, Sonia Shah
30 June 2023
Lateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerationsAnastasios Goulioumis, Michalis Athanasopoulos, Kleanthi Kalogerakou, Kostis Gyftopoulos
30 June 2023
Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2Ernestina Mwipopo, Mariam Mngoya Massomo, Robert Moshiro, Karim Premji Manji
23 June 2023
Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndromeSaikat Patra, Garima Goyal, Yasir Ahmad Lone, Girish Gupta
31 May 2023
