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
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