Genetic screening / counselling

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic 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
Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation
Olivia R Wood, Tobias Else, Matthew G Sampson

BMJ Case Reports CP Aug 2019, 12 (8) e229904; DOI: 10.1136/bcr-2019-229904
Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning
Vinita Gupta, Mahsa Jamil, Saurabh Luthra, Athul S Puthalath

BMJ Case Reports CP Aug 2019, 12 (8) e229554; DOI: 10.1136/bcr-2019-229554
Mandibulofacial dysostosis with microcephaly: a syndrome to remember
Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos

BMJ Case Reports CP Aug 2019, 12 (8) e229831; DOI: 10.1136/bcr-2019-229831
Worsening of movement disorder following treatment with electroconvulsive therapy in a patient with Huntington’s disease
Hesitha Abeysundera, Allan Campbell, Shanthi Sarma

BMJ Case Reports CP Aug 2019, 12 (8) e230389; DOI: 10.1136/bcr-2019-230389
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor
Farnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D Roberts

BMJ Case Reports CP Jul 2019, 12 (7) e227986; DOI: 10.1136/bcr-2018-227986
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045

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Genetic screening / counselling