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Genetic screening / counselling
- Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndromeSaikat Patra, Garima Goyal, Yasir Ahmad Lone, Girish GuptaBMJ Case Reports CP May 2023, 16 (5) e255561; DOI: 10.1136/bcr-2023-255561
- Bullous eruptions in transient abnormal myelopoiesis with normal phenotypeMadhusudhan Demahalli Shivamallappa, Anna Mullins, Kathryn Browning CarmoBMJ Case Reports CP Apr 2023, 16 (4) e251523; DOI: 10.1136/bcr-2022-251523
- Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotypeAlamin Alkundi, Rabiu MomohBMJ Case Reports CP Mar 2023, 16 (3) e252362; DOI: 10.1136/bcr-2022-252362
- 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
- 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
- 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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