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Genetics
- Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)Inês Gouveia, Ana Filipa Geraldo, Cristina Godinho, Sérgio CastedoBMJ Case Reports CP Mar 2023, 16 (3) e254366; DOI: 10.1136/bcr-2022-254366
- Two siblings with a rare type of maturity-onset diabetes of the young (MODY)Fatima Riyadh Alhakim, Haya AlKhayyatBMJ Case Reports CP Feb 2023, 16 (2) e249362; DOI: 10.1136/bcr-2022-249362
- Fetal hemivertebra: a rare form of 18q deletion prenatal presentationMafalda Laranjo, Márcia Marinho, Conceição Brito, Cristina GodinhoBMJ Case Reports CP Feb 2023, 16 (2) e251914; DOI: 10.1136/bcr-2022-251914
- 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
- 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
- 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
- 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
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