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Genetics
- Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelinesSophie Howarth, Richard QuintonBMJ Case Reports CP Aug 2022, 15 (8) e250870; DOI: 10.1136/bcr-2022-250870
- Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infantNaveen Parkash Gupta, Anil Batra, Ratna Puri, Varun MeenaBMJ Case Reports CP Oct 2020, 13 (10) e235520; DOI: 10.1136/bcr-2020-235520
- Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophyPranav Gupta, Stephanie R Keller, Briana PattersonBMJ Case Reports CP Aug 2022, 15 (8) e249905; DOI: 10.1136/bcr-2022-249905
- Ehlers-Danlos syndrome presenting with primary nocturnal enuresisMargarida Cunha, Mafalda Matias, Inês MarquesBMJ Case Reports CP Feb 2020, 13 (2) e231977; DOI: 10.1136/bcr-2019-231977
- Branding of subjects affected with genetic syndromes of severe short stature in developing countriesJaime Guevara-Aguirre, Carolina Guevara, Alexandra Guevara, Antonio AWD GavilanesBMJ Case Reports CP Feb 2020, 13 (2) e231737; DOI: 10.1136/bcr-2019-231737
- Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiencySimona Abraitytė, Elisabeth Kotsi, Lisa Anne Devlin, John David Moore EdgarBMJ Case Reports CP Feb 2020, 13 (2) e232741; DOI: 10.1136/bcr-2019-232741
- Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?Dilanka L De Silva, Ingrid WinshipBMJ Case Reports CP Sep 2020, 13 (9) e236435; DOI: 10.1136/bcr-2020-236435
- Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenarioAbhishek Goyal, Bishav Mohan, Kavita Saggar, Gurpreet Singh WanderBMJ Case Reports CP Sep 2020, 13 (9) e235650; DOI: 10.1136/bcr-2020-235650
- Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleedingZaker I Schwabkey, Farrell C Sheehan, Courtney Bellomo, Mihir RavalBMJ Case Reports CP Sep 2020, 13 (9) e235961; DOI: 10.1136/bcr-2020-235961
- Incomplete primary hypertrophic osteoarthropathyAvijeet Prasad, Pratyush Shahi, Apoorv Sehgal, Manoj Bhagirathi MallikarjunaswamyBMJ Case Reports CP May 2020, 13 (5) e236034; DOI: 10.1136/bcr-2020-236034
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