Genetic screening / counselling

Galactosaemia occurring in association with primary ovarian insufficiency, Addison’s disease and chronic myeloid leukaemia
Brandon Khoury, Mohamed KM Shakir, Thanh Duc Hoang

BMJ Case Reports CP Aug 2021, 14 (8) e244788; DOI: 10.1136/bcr-2021-244788
Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 gene
Aishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar Narasimhan

BMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152
Rare variant of genetically confirmed tuberous sclerosis complex presenting with bilateral renal angiomyolipoma in Wünderlich syndrome
Ramon Jr Bagaporo Larrazabal, Harold Henrison Chang Chiu, Dennis L Sacdalan

BMJ Case Reports CP Aug 2021, 14 (8) e243380; DOI: 10.1136/bcr-2021-243380
Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy
Benjamin Ng, Samantha R De Silva, Mandeep S 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

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Genetic screening / counselling

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