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Genetics
- Thoracic venous malformation: a particular form of a visceral variantInês Pessanha, Paloma Triana, Victor Martinez-Glez, Juan Carlos Lopez-GutierrezBMJ Case Reports CP Jun 2022, 15 (6) e250307; DOI: 10.1136/bcr-2022-250307
- 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
- Prenatal diagnosis of fetal hemivertebra at 12 weeks of gestationDiana Monteiro, Inês Sarmento Gonçalves, Cristina Godinho, Rosete Novais NogueiraBMJ Case Reports CP Jun 2022, 15 (6) e251293; DOI: 10.1136/bcr-2022-251293
- Unusual neuroimaging features in a patient with chromosome 11q14.1–11q23.2 deletionClarice Ho, Hollie A Lai, John Ross CrawfordBMJ Case Reports CP Nov 2022, 15 (11) e253514; DOI: 10.1136/bcr-2022-253514
- Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhoodYaja Jebaying, Karunesh Kumar, Smita Malhotra, Anupam SibalBMJ Case Reports CP Feb 2023, 16 (2) e245852; DOI: 10.1136/bcr-2021-245852
- 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
- 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
- GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformationsMollie Helena McMahon, Nasim Tahir, Meena BalasubramanianBMJ Case Reports CP Jun 2022, 15 (6) e246114; DOI: 10.1136/bcr-2021-246114
- 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
- HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemiaShobitha Vollmer, Per Katzman, Magnus LondahlBMJ Case Reports CP Feb 2023, 16 (2) e254274; DOI: 10.1136/bcr-2022-254274
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