Genetic screening / counselling

Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy
Gautam Sen, Eleanor Barendt, Manas Sinha

BMJ Case Reports CP Feb 2021, 14 (2) e237604; DOI: 10.1136/bcr-2020-237604
Monogenic diabetes: a new pathogenic variant of HNF1A gene
Raquel Vilela Oliveira, Teresa Bernardo, Sandrina Martins, Ana Sequeira

BMJ Case Reports CP Jan 2021, 14 (1) e231837; DOI: 10.1136/bcr-2019-231837
ATM germline variants and male breast cancer
Renato Cunha, Priscila Nejo, Sandra Bento, Fátima Vaz

BMJ Case Reports CP Jan 2021, 14 (1) e238100; DOI: 10.1136/bcr-2020-238100
Budd-Chiari syndrome diagnosed with pregnancy in a patient with inherited thrombophilia
Islam Tarek Elkhateb, Abdalla Mousa, Ahmed Hashem

BMJ Case Reports CP Jan 2021, 14 (1) e237761; DOI: 10.1136/bcr-2020-237761
Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family
Elizabeth H Dineen, Ali Torkamani, Evan D Muse

BMJ Case Reports CP Jan 2021, 14 (1) e237592; DOI: 10.1136/bcr-2020-237592
Prenatal diagnosis of absent pulmonary valve syndrome
Maria Lúcia Moleiro, Luís Guedes-Martins

BMJ Case Reports CP Jan 2021, 14 (1) e240567; DOI: 10.1136/bcr-2020-240567
Prenatal diagnosis of factor 13 deficiency and its recurrence
Papa Dasari, Sairem Mangolngnbi Chanu, Laxmi Prasanna Gadipudi

BMJ Case Reports CP Dec 2020, 13 (12) e236365; DOI: 10.1136/bcr-2020-236365
Paediatric bilateral femoral neck fractures in osteopetrosis treated conservatively
Saurabh Kumar, Ish Kumar Dhammi, Pratyush Shahi, Ahmer Zafar

BMJ Case Reports CP Dec 2020, 13 (12) e236891; DOI: 10.1136/bcr-2020-236891
Infantile presentation of 3q26.33-3q27.2 deletion syndrome
Renee Robilliard, Mustafa Caylan

BMJ Case Reports CP Nov 2020, 13 (11) e233215; DOI: 10.1136/bcr-2019-233215
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

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Genetic screening / counselling

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