Osteogenesis imperfecta type VIII: highlighting the need for genetic testingHaika Mariki, Kandi Muze, Fatima Mussa, Karim Premji Manji
12 July 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
Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemiaShiva Barforoshi, Jenica Thangathurai, Houman Khakpour, Sonia Shah
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
Acute haemorrhage from a large renal epithelioid angiomyolipoma: diagnostic and management considerations in a teenage patient with a rare cancerSamantha Conroy, Jon Griffin, Marcus Cumberbatch, Sanjeev Pathak
18 May 2023
Delayed diagnosis of a scaling genodermatosisClare Harnett, Mohammad Al-Jubouri, Nekma Meah
17 May 2023
Bullous eruptions in transient abnormal myelopoiesis with normal phenotypeMadhusudhan Demahalli Shivamallappa, Anna Mullins, Kathryn Browning Carmo
7 April 2023
Homozygous mild beta-thalassaemia promoter transversion −71 C>T HBB:c.-121 C>TSuha Mustafa Hassan, Abdulhakim Alrawas, Laila Al Khanbashi, Yasser Wali
4 April 2023
Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotypeAlamin Alkundi, Rabiu Momoh
30 March 2023
