Genetic Screening / Counselling

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
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
Apert syndrome: prenatal diagnosis challenge
Catarina Vieira, Neusa Teixeira, Alexandra Cadilhe, Isabel Reis

BMJ Case Reports CP Dec 2019, 12 (12) e231982; DOI: 10.1136/bcr-2019-231982
Sirenomelia (mermaid syndrome): a rare congenital disorder
Muhammad Imran Riazat, Bharti Kewlani, Jamaleddin Abujennah, Farhana Sharif

BMJ Case Reports CP Nov 2019, 12 (11) e229970; DOI: 10.1136/bcr-2019-229970
Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC
Vivek Sant, Elsa Reich, Lauren Khanna, Wenqing Cao, Susan Kornacki, Alexis Grucela

BMJ Case Reports CP Nov 2019, 12 (11) e231232; DOI: 10.1136/bcr-2019-231232
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
Maria Johannessen, Inger Breistein Haugen, Trine Lise Bakken, Øivind Braaten

BMJ Case Reports CP Nov 2019, 12 (11) e228258; DOI: 10.1136/bcr-2018-228258

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Genetic Screening / Counselling

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