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Genetic screening / counselling
- Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertoniaArjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema GaregratBMJ Case Reports CP Jul 2021, 14 (7) e240397; DOI: 10.1136/bcr-2020-240397
- A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathySandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia LinoBMJ Case Reports CP Jul 2021, 14 (7) e242341; DOI: 10.1136/bcr-2021-242341
- Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopyBenjamin Ng, Samantha R De Silva, Mandeep S BindraBMJ Case Reports CP Jul 2021, 14 (7) e241708; DOI: 10.1136/bcr-2021-241708
- Homozygous V377I mutation causing mevalonate kinaseTeresa Brito, Denise Banganho, Cristina Pedrosa, João Farela NevesBMJ Case Reports CP Apr 2022, 15 (4) e249135; DOI: 10.1136/bcr-2022-249135
- 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
- Pigmented hypertrichotic dermatosis: manifestations of a rare syndromeSanae Sialiti, Siham Mansouri, Mehdi Khallaayoune, Karima SenouciBMJ Case Reports CP Mar 2021, 14 (4) e241838; DOI: 10.1136/bcr-2021-241838
- 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
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancyDeepa Balachandran Nair, Mariana Bloomfield, Rajeswari Parasuraman, David T HoweBMJ Case Reports CP Apr 2021, 14 (4) e235111; DOI: 10.1136/bcr-2020-235111
- 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
- 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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