Genetic Screening / Counselling

Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy
Benjamin Ng, Samantha De Silva, Mandeep Bindra

BMJ Case Reports CP Jul 2021, 14 (7) e241708; DOI: 10.1136/bcr-2021-241708
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino

BMJ Case Reports CP Jul 2021, 14 (7) e242341; DOI: 10.1136/bcr-2021-242341
Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia
Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat

BMJ Case Reports CP Jul 2021, 14 (7) e240397; DOI: 10.1136/bcr-2020-240397
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767
Unexpected presentation of acute porphyria
Chiun Khang Kiew, Adeline Serena Ee Ling Lam

BMJ Case Reports CP Jun 2021, 14 (6) e241580; DOI: 10.1136/bcr-2021-241580
Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant
Mohammad Baidoun, Mohamed Elgendy, James Loker

BMJ Case Reports CP Jun 2021, 14 (6) e241519; DOI: 10.1136/bcr-2020-241519
JAK 2 positive myeloproliferative neoplasm presenting as stroke, recurrent TIA and isolated third nerve palsy
Paul Bolaji, Saugata Das, Nasar Ahmad

BMJ Case Reports CP Jun 2021, 14 (6) e242270; DOI: 10.1136/bcr-2021-242270
Lithium-induced ECG modifications: navigating from acute coronary syndrome to Brugada syndrome
Léonard Diserens, Alessandra Pia Porretta, Catalina Trana, David Meier

BMJ Case Reports CP Jun 2021, 14 (6) e241555; DOI: 10.1136/bcr-2021-241555
Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect
Vivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla

BMJ Case Reports CP Jun 2021, 14 (6) e239755; DOI: 10.1136/bcr-2020-239755
Poland’s syndrome mimicking traumatic chest injury
May Honey Ohn, Khin Maung Ohn

BMJ Case Reports CP May 2021, 14 (5) e241408; DOI: 10.1136/bcr-2020-241408

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Genetic Screening / Counselling

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