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Genetics
- Hepatomegaly with neutropenia: a girl with glycogen storage disease IbDeepanjan Bhattacharya, Anil Kumar BN, Inusha Panigrahi, Anupriya KaurBMJ Case Reports CP Jul 2019, 12 (7) e230660; DOI: 10.1136/bcr-2019-230660
- Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 geneReema Garegrat, Suprabha Patnaik, Pradeep Suryawanshi, Chaitanya DatarBMJ Case Reports CP Mar 2021, 14 (3) e240218; DOI: 10.1136/bcr-2020-240218
- Association between pheochromocytoma and neurofibromatosis type I: a rare entity in the African populationBrandon S Jackson, Maryke De Villiers, Daniel MontwediBMJ Case Reports CP May 2021, 14 (5) e238380; DOI: 10.1136/bcr-2020-238380
- Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathyAdil Ahmed Khan, Chaithanya Reddy, Arushi Gahlot Saini, Sameer VyasBMJ Case Reports CP Aug 2020, 13 (8) e235468; DOI: 10.1136/bcr-2020-235468
- Late survival in Ellis-van Creveld syndrome with common single atriumKesar Prajapati, Jaya Pathak, Vikranti Sailor, Parth AdrejiyaBMJ Case Reports CP Mar 2021, 14 (3) e239663; DOI: 10.1136/bcr-2020-239663
- 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
- Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemiaCathrine Constantacos, Janel Darcy Hunter, Elizabeth Tharpe Walsh, Andrew Michael SouthBMJ Case Reports CP May 2021, 14 (5) e240336; DOI: 10.1136/bcr-2020-240336
- Four erupted supernumerary teeth around the maxillary second molarKohei Tominaga, Ryo Sasaki, Toshihiro OkamotoBMJ Case Reports CP May 2021, 14 (5) e241213; DOI: 10.1136/bcr-2020-241213
- Hereditary haemochromatosis presenting to rheumatology clinic as inflammatory arthritisRyan Malcolm Hum, Pauline HoBMJ Case Reports CP Jan 2022, 15 (1) e246236; DOI: 10.1136/bcr-2021-246236
- Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease associationClara Smith, David Hamilton, Stuart WaterstonBMJ Case Reports CP May 2022, 15 (5) e248076; DOI: 10.1136/bcr-2021-248076
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