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Genetics
- Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinomaEunji Yim, Denise LeungBMJ Case Reports CP Jun 2022, 15 (6) e249837; DOI: 10.1136/bcr-2022-249837
- Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstructionToru Sasaki, Ryutaro Onaga, Ryota KoshuBMJ Case Reports CP Jun 2022, 15 (6) e250990; DOI: 10.1136/bcr-2022-250990
- 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
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetusAlexandros Leonidas Liarakos, Patrick Tran, Ranganatha Rao, Narasimha MurthyBMJ Case Reports CP May 2022, 15 (5) e250350; DOI: 10.1136/bcr-2022-250350
- Coats-plus syndrome: when imaging leads to genetic diagnosisCarolina Maia, Mariana Batista, Filipe Palavra, Joana PintoBMJ Case Reports CP May 2022, 15 (5) e249702; DOI: 10.1136/bcr-2022-249702
- Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarcaSurabhi Dogra, Karunesh Kumar, Smita Malhotra, Anupam SibalBMJ Case Reports CP May 2022, 15 (5) e245884; DOI: 10.1136/bcr-2021-245884
- Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literatureShima Chundoo, David M McGoldrick, Rhodri Williams, Kevin McMillanBMJ Case Reports CP May 2022, 15 (5) e246789; DOI: 10.1136/bcr-2021-246789
- Early renal failure in childhood in a male with Fabry diseaseJosephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, Uma RamaswamiBMJ Case Reports CP May 2022, 15 (5) e246682; DOI: 10.1136/bcr-2021-246682
- Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOXLeticia Estefania Campoverde, Felipe Batalini, Yarab Bulushi, Andrea BullockBMJ Case Reports CP Apr 2022, 15 (4) e249370; DOI: 10.1136/bcr-2022-249370
- RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome familiesKelly Fulk, Morgan Turner, Amanda Eppolito, Rebekah KrukenbergBMJ Case Reports CP Apr 2022, 15 (4) e249580; DOI: 10.1136/bcr-2022-249580
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