Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiencyBinh Thanh Le, Cuong Minh Duong, Tien Quoc Nguyen, Chau Minh Nguyen
8 December 2022
Use of tissue samples in diagnosing diploid triploid mosaicismOisín Mahon, Áine Fox, Sally Ann Lynch, Katie Cunningham
8 December 2022
Somatic gene mutations in malignant steroid cell tumours and response to multiple treatmentsKazuho Nakanishi, Tomoaki Fukagawa, Takashi Yamada, Shunji Suzuki
8 December 2022
Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variantMichelle Robyn Schneeweiss, Breanne Dale, Resham Ejaz
7 December 2022
Perivascular epithelioid cell tumour and investigation of genetic susceptibilityNegin Sadeghi, Sarah Smyth, Stephen Damato, Hooman Soleymani majd
30 November 2022
Neonatal diabetes with a rare LRBA mutationArti Yadav, Rakesh Kumar, Amit Rawat, Radha Venkatesan
24 November 2022
Clinical heterogeneity in monogenic chylomicronaemiaBritt E Heidemann, Remy H H Bemelmans, A David Marais, Frank L J Visseren, Charlotte Koopal
24 November 2022
Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD)Randah Dahlan, Eman Bablghaith
22 November 2022
Adult progeria: a new mutation in the WRN geneMargarida Lucas Rocha, Ana Teodósio Chicharo, Graça Sequeira, Vitor Teixeira
17 November 2022
Early diagnosis of Malan syndrome in an infant presenting with macrocephalyLydia Seed, Natasha G, Sarah Prentice, Prathiba Chandershekar
15 November 2022