Genetic Screening / Counselling

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
Novel missense mutation in the ATP1A2 gene associated with atypical sporadic hemiplegic migraine
Marianna Gabriella Rispoli, Vincenzo Di Stefano, Elide Mantuano, Maria Vittoria De Angelis

BMJ Case Reports CP Oct 2019, 12 (10) e231129; DOI: 10.1136/bcr-2019-231129
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient
Mesaki Kenneth Ndugga-Kabuye, Joseph Maleszewski, Sirisak Chanprasert, Kelly D Smith

BMJ Case Reports CP Sep 2019, 12 (9) e230068; DOI: 10.1136/bcr-2019-230068

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Genetic Screening / Counselling

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