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Genetic Screening / Counselling
- Recurrent fetal triploidy: is there a genetic cause?Andreia Fontoura Oliveira, Maria Manuel Torrão, Rosete Nogueira, Manuela FerreiraBMJ Case Reports CP Mar 2021, 14 (3) e239843; DOI: 10.1136/bcr-2020-239843
- Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failureJiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka KalbhorBMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767
- Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargementAtaf Sabir, Gabriella Parry, Tricia Heaton, Kai Ren OngBMJ Case Reports CP Mar 2021, 14 (3) e236768; DOI: 10.1136/bcr-2020-236768
- Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patientStavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos VlahosBMJ Case Reports CP Mar 2021, 14 (3) e241251; DOI: 10.1136/bcr-2020-241251
- Atypical morphological variants of congenital cataract in Down’s syndromeSudarshan Khokhar, Mousumi Banerjee, Sandton Jayakumari Simon Raj, Shweta SandhuBMJ Case Reports CP May 2021, 14 (5) e242759; DOI: 10.1136/bcr-2021-242759
- Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare diseaseRyan Curtis Roopnarinesingh, Noel Edward Donlon, John V ReynoldsBMJ Case Reports CP Dec 2021, 14 (12) e244240; DOI: 10.1136/bcr-2021-244240
- BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapyTomohiro Sakamoto, Katsunori Arai, Karen Makishima, Akira YamasakiBMJ Case Reports CP Dec 2021, 14 (12) e243295; DOI: 10.1136/bcr-2021-243295
- Lithium-induced ECG modifications: navigating from acute coronary syndrome to Brugada syndromeLéonard Diserens, Alessandra Pia Porretta, Catalina Trana, David MeierBMJ Case Reports CP Jun 2021, 14 (6) e241555; DOI: 10.1136/bcr-2021-241555
- Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infantMohammad Baidoun, Mohamed Elgendy, James LokerBMJ Case Reports CP Jun 2021, 14 (6) e241519; DOI: 10.1136/bcr-2020-241519
- Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathyGautam Sen, Eleanor Barendt, Manas SinhaBMJ Case Reports CP Feb 2021, 14 (2) e237604; DOI: 10.1136/bcr-2020-237604
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