Genetic screening / counselling

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
Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndrome
Kyler Kozacek, Ryan Luzano Santos, Michael Abdo, Pedro A Manibusan

BMJ Case Reports CP Aug 2020, 13 (8) e236845; DOI: 10.1136/bcr-2020-236845
Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene
Vânia Gomes, Catarina Silvestre, Florbela Ferreira, Maria João Guerreiro Martins Bugalho

BMJ Case Reports CP Jun 2020, 13 (6) e234391; DOI: 10.1136/bcr-2020-234391
Ebstein anomaly associated with cri du chat (cat’s cry) syndrome and 20q duplication
Alberto Olivella, Hernan Manotas, César Payán-Gómez, Juan Gabriel Piñeros

BMJ Case Reports CP Jun 2020, 13 (6) e233766; DOI: 10.1136/bcr-2019-233766
Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency
Simona Abraitytė, Elisabeth Kotsi, Lisa Anne Devlin, John David Moore Edgar

BMJ Case Reports CP Feb 2020, 13 (2) e232741; DOI: 10.1136/bcr-2019-232741
Ehlers-Danlos syndrome presenting with primary nocturnal enuresis
Margarida Cunha, Mafalda Matias, Inês Marques

BMJ Case Reports CP Feb 2020, 13 (2) e231977; DOI: 10.1136/bcr-2019-231977
Anaesthetic management of a parturient with spondylothoracic dysostosis
Reine Zbeidy, Nathalia Torres Buendia, Fouad G Souki

BMJ Case Reports CP Jan 2020, 13 (1) e232964; DOI: 10.1136/bcr-2019-232964
Paternal uniparental disomy for chromosome 14: prenatal management
Joana Isabel Igreja da Silva, Barbara Ribeiro, Alexandra Cadilhe, Cristina Nogueira-Silva

BMJ Case Reports CP Dec 2019, 12 (12) e231705; DOI: 10.1136/bcr-2019-231705
Catastrophic extrarenal manifestation of autosomal dominant polycystic kidney disease: lessons learnt
Yousif Mohamed Hydoub, Maryam Alnuaimi, Seema Nour

BMJ Case Reports CP Dec 2019, 12 (12) e231944; DOI: 10.1136/bcr-2019-231944

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Genetic screening / counselling

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