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
De novo monocytic-M5b AML with t(8;16) (p11.2; p13.3) KAT6A/CREBBP fusion and FLT3-TKD mutation complicated by chemotherapy-induced Takotsubo cardiomyopathyAnil Ananthaneni, Taras Benzar, Nazar Hafiz, Hugo Akabane
28 March 2023
Abnormal liver function tests and improved survival in a child with splice mutation TARP syndromeMichael Lane, Nicholas M Allen, Johannes Letshwiti
21 March 2023
Novel mutation causing Zellweger syndromeSasidharan Adiyapatham, Ambalakkuthan Murugesan
17 March 2023
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young womanPrithivi Raaj Prakash, Gaurav Gupta, Mukul Aggarwal, Upendra Baitha
17 March 2023
Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)Inês Gouveia, Ana Filipa Geraldo, Cristina Godinho, Sérgio Castedo
8 March 2023
