Genetic screening / counselling

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