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Genetic Screening / Counselling
- Pseudo-Bartter syndrome as the initial presentation of cystic fibrosis in children: an important diagnosis not to be missedCarlota Ferreirinha Lopes, Vera Almeida, Susana Gomes, Carla CruzBMJ Case Reports CP Jan 2024, 17 (1) e257348; DOI: 10.1136/bcr-2023-257348
- Retinal vasoproliferative tumour: differential diagnoses and treatment considerations in a paediatric patientAmy Coman, Patrick Murtagh, Noel HorganBMJ Case Reports CP Sep 2023, 16 (9) e254859; DOI: 10.1136/bcr-2023-254859
- Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1BAnne-Marie Van der Biest, Harald Jüppner, Corina Andreescu, Bert BravenboerBMJ Case Reports CP Feb 2024, 17 (2) e258403; DOI: 10.1136/bcr-2023-258403
- Hepatoblastoma in a cirrhotic child with Alagille syndromeSumit Agrawal, Bishnupriya Sahoo, Karunesh Kumar, Smita Malhotra, Anupam SibalBMJ Case Reports CP Feb 2024, 17 (2) e253080; DOI: 10.1136/bcr-2022-253080
- Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infantShruthi Kumar Bharadwaj, Sheila Samanta Mathai, Smriti Bhargava, Leslie Edward S LewisBMJ Case Reports CP Feb 2024, 17 (2) e257746; DOI: 10.1136/bcr-2023-257746
- Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndromeAustin Burns, Jamie HugBMJ Case Reports CP Feb 2024, 17 (2) e259103; DOI: 10.1136/bcr-2023-259103
- Phenocopy or variant? A longitudinal study of very slowly progressive frontotemporal dementia confirmed on genetic testingAmy Brodtmann, Fairlie Hinton, Catriona McLean, David DarbyBMJ Case Reports CP Feb 2024, 17 (2) e254962; DOI: 10.1136/bcr-2023-254962
- Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variationAswanth KS, Adity Bansal, Prashant Kumar Verma, Nowneet Kumar BhatBMJ Case Reports CP Dec 2023, 16 (12) e253086; DOI: 10.1136/bcr-2022-253086
- PIEZO1 mutation: a rare aetiology for fetal ascitesHelen Stolyar, Teresa Berry, Amit Pal Singh, Ichhcha MadanBMJ Case Reports CP Apr 2021, 14 (4) e240682; DOI: 10.1136/bcr-2020-240682
- Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndromeMargarita E Polyak, Anna Shestak, Dmitriy Podolyak, Elena ZaklyazminskayaBMJ Case Reports CP Aug 2020, 13 (8) e235703; DOI: 10.1136/bcr-2020-235703
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