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Genetics
- Portal hypertension: not a common NiemannVinaya Gopalaswamy, Sharath P Madhyastha, Raviraja Acharya, Chethan ManoharBMJ Case Reports CP Dec 2019, 12 (12) e232660; DOI: 10.1136/bcr-2019-232660
- Prenatal diagnosis of craniorachischisis totalisPaulina Costa, Andreia Fontoura Oliveira, António Baptista VilaçaBMJ Case Reports CP Apr 2022, 15 (4) e244682; DOI: 10.1136/bcr-2021-244682
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetusAlexandros Leonidas Liarakos, Patrick Tran, Ranganatha Rao, Narasimha MurthyBMJ Case Reports CP May 2022, 15 (5) e250350; DOI: 10.1136/bcr-2022-250350
- Nephrotic syndrome secondary to alpha-1 antitrypsin deficiencyGabriela F Santos, Paul Ellis, Daniela Farrugia, Alice M TurnerBMJ Case Reports CP Mar 2021, 14 (3) e240288; DOI: 10.1136/bcr-2020-240288
- Diagnostic and management considerations in pseudohypoaldosteronism type 1bJelte Kelchtermans, Sara E Pinney, Jacqueline M M Leonard, Sharon Mcgrath-MorrowBMJ Case Reports CP Jan 2022, 15 (1) e246538; DOI: 10.1136/bcr-2021-246538
- Novel manifestations of Farber disease mimicking neuronopathic Gaucher diseaseShweta Mhatre, Mamta Muranjan, Sunil Karande, Harish BalajiBMJ Case Reports CP May 2021, 14 (5) e240742; DOI: 10.1136/bcr-2020-240742
- Visual loss and optic neuropathy in a patient with Klinefelter’s syndrome, open-angle glaucoma, vitamin B12 (cobalamin) and folate deficiencyJyotin C Pandit, Thomas William McNally, Hani Hasan, Rachel Leanna PanditBMJ Case Reports CP Feb 2022, 15 (2) e244373; DOI: 10.1136/bcr-2021-244373
- Bruck syndrome: a rare cause of reduced fetal movementsSabnam Parvin, Arkadeep Dhali, Dijendra Nath Biswas, Sukanta RayBMJ Case Reports CP Dec 2021, 14 (12) e246786; DOI: 10.1136/bcr-2021-246786
- 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
- 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
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