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- Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP geneSagarika Snehi, Anupriya Kaur, Chakshu Chaudhry, Sushmita KaushikBMJ Case Reports CP Jan 2023, 16 (1) e251543; DOI: 10.1136/bcr-2022-251543
- Case of bilateral hip joint Charcot arthropathy in a paediatric patientAtmananda Hegde, Shruthi H Kamath, Prajwal Prabhudev Mane, Chethan B ShettyBMJ Case Reports CP Jan 2023, 16 (1) e252420; DOI: 10.1136/bcr-2022-252420
- Vascular malformation rupture in a patient affected by Costello syndromeFrancesca Barbieri, Ignacio Fernando Hall, Leonardo Elia, Efrem CiviliniBMJ Case Reports CP Dec 2022, 15 (12) e250948; DOI: 10.1136/bcr-2022-250948
- 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 NguyenBMJ Case Reports CP Dec 2022, 15 (12) e250238; DOI: 10.1136/bcr-2022-250238
- Perivascular epithelioid cell tumour and investigation of genetic susceptibilityNegin Sadeghi, Sarah Smyth, Stephen Damato, Hooman Soleymani majdBMJ Case Reports CP Nov 2022, 15 (11) e250460; DOI: 10.1136/bcr-2022-250460
- Clinical heterogeneity in monogenic chylomicronaemiaBritt E Heidemann, Remy H H Bemelmans, A David Marais, Frank L J Visseren, Charlotte KoopalBMJ Case Reports CP Nov 2022, 15 (11) e251411; DOI: 10.1136/bcr-2022-251411
- Neonatal diabetes with a rare LRBA mutationArti Yadav, Rakesh Kumar, Amit Rawat, Radha VenkatesanBMJ Case Reports CP Nov 2022, 15 (11) e250243; DOI: 10.1136/bcr-2022-250243
- Adult progeria: a new mutation in the WRN geneMargarida Lucas Rocha, Ana Teodósio Chicharo, Graça Sequeira, Vitor TeixeiraBMJ Case Reports CP Nov 2022, 15 (11) e252646; DOI: 10.1136/bcr-2022-252646
- Early diagnosis of Malan syndrome in an infant presenting with macrocephalyLydia Seed, Natasha G, Sarah Prentice, Prathiba ChandershekarBMJ Case Reports CP Nov 2022, 15 (11) e249391; DOI: 10.1136/bcr-2022-249391
- Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration familyLaura Budurlean, Maria Baker, James BroachBMJ Case Reports CP Nov 2022, 15 (11) e251336; DOI: 10.1136/bcr-2022-251336
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