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Genetics
- Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancyKalika Dubey, Charu Sharma, Suma Shet, Shashank ShekharBMJ Case Reports CP Feb 2023, 16 (2) e252829; DOI: 10.1136/bcr-2022-252829
- KRAS G12D mutation in Brunner gland adenomaMahatma Ortega, Jessica Sparks, Jack Lichy, Victor E NavaBMJ Case Reports CP Jan 2023, 16 (1) e252160; DOI: 10.1136/bcr-2022-252160
- 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
- NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?Ahmed El-Medany, Shahid Aziz, Edward DuncanBMJ Case Reports CP Jan 2023, 16 (1) e252523; DOI: 10.1136/bcr-2022-252523
- 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
- Use of tissue samples in diagnosing diploid triploid mosaicismOisín Mahon, Áine Fox, Sally Ann Lynch, Katie CunninghamBMJ Case Reports CP Dec 2022, 15 (12) e252779; DOI: 10.1136/bcr-2022-252779
- 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
- Somatic gene mutations in malignant steroid cell tumours and response to multiple treatmentsKazuho Nakanishi, Tomoaki Fukagawa, Takashi Yamada, Shunji SuzukiBMJ Case Reports CP Dec 2022, 15 (12) e248486; DOI: 10.1136/bcr-2021-248486
- Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variantMichelle Robyn Schneeweiss, Breanne Dale, Resham EjazBMJ Case Reports CP Dec 2022, 15 (12) e248995; DOI: 10.1136/bcr-2022-248995
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