Genetics

Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene
Reema Garegrat, Suprabha Patnaik, Pradeep Suryawanshi, Chaitanya Datar

BMJ 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 population
Brandon S Jackson, Maryke De Villiers, Daniel Montwedi

BMJ Case Reports CP May 2021, 14 (5) e238380; DOI: 10.1136/bcr-2020-238380
Critical COVID-19 in a pregnant patient who presented in starvation ketoacidosis with a background history of acrorenal syndrome
Aoife Brady, Ahmed Aglan

BMJ Case Reports CP Nov 2021, 14 (11) e244117; DOI: 10.1136/bcr-2021-244117
Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy
Adil Ahmed Khan, Chaithanya Reddy, Arushi Gahlot Saini, Sameer Vyas

BMJ Case Reports CP Aug 2020, 13 (8) e235468; DOI: 10.1136/bcr-2020-235468
SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
Md Jasim Alam, Anusree Krishna Mandal, Subinay Mandal, Jadab Kumar Jana

BMJ Case Reports CP Jul 2022, 15 (7) e251092; DOI: 10.1136/bcr-2022-251092
Late survival in Ellis-van Creveld syndrome with common single atrium
Kesar Prajapati, Jaya Pathak, Vikranti Sailor, Parth Adrejiya

BMJ Case Reports CP Mar 2021, 14 (3) e239663; DOI: 10.1136/bcr-2020-239663
Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome
Margarita E Polyak, Anna Shestak, Dmitriy Podolyak, Elena Zaklyazminskaya

BMJ Case Reports CP Aug 2020, 13 (8) e235703; DOI: 10.1136/bcr-2020-235703
Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX
Leticia Estefania Campoverde, Felipe Batalini, Yarab Bulushi, Andrea Bullock

BMJ Case Reports CP Apr 2022, 15 (4) e249370; DOI: 10.1136/bcr-2022-249370
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)
Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira Lal

BMJ Case Reports CP Mar 2021, 14 (3) e242586; DOI: 10.1136/bcr-2021-242586
RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
Kelly Fulk, Morgan Turner, Amanda Eppolito, Rebekah Krukenberg

BMJ Case Reports CP Apr 2022, 15 (4) e249580; DOI: 10.1136/bcr-2022-249580

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Genetics

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