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Genetics
- Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factorFarnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D RobertsBMJ Case Reports CP Jul 2019, 12 (7) e227986; DOI: 10.1136/bcr-2018-227986
- Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndromeShrinal Kotecha, Venkatesh KairamkondaBMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
- Challenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenomaNelson Carvalho Cunha, Leonor Gomes, Margarida BastosBMJ Case Reports CP Jul 2019, 12 (7) e229430; DOI: 10.1136/bcr-2019-229430
- Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropicsJagadeesh Menon, Vybhav Venkatesh, Balamurugan Thirunavukkarasu, Sadhna Bhasin LalBMJ Case Reports CP Jul 2019, 12 (7) e229419; DOI: 10.1136/bcr-2019-229419
- Niemann-Pick disease type C presenting as very early onset inflammatory bowel diseaseChinenye Rebecca Dike, John Bernat, Warren Bishop, Catherine DeGeeterBMJ Case Reports CP Jul 2019, 12 (7) e229780; DOI: 10.1136/bcr-2019-229780
- Inherited cause of in utero digital malformationsCatherine Gooch, Caitlin Wright, Katherine Nelson, Nathaniel RobinBMJ Case Reports CP Mar 2020, 13 (3) e232020; DOI: 10.1136/bcr-2019-232020
- Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobandsAna Gómez-Carpintero García, Ana Vidal Esteban, Amanda Bermejo Gómez, Ruth Camila Púa TorrejónBMJ Case Reports CP Mar 2020, 13 (3) e231938; DOI: 10.1136/bcr-2019-231938
- Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiencySimona Abraitytė, Elisabeth Kotsi, Lisa Anne Devlin, John David Moore EdgarBMJ Case Reports CP Feb 2020, 13 (2) e232741; DOI: 10.1136/bcr-2019-232741
- Branding of subjects affected with genetic syndromes of severe short stature in developing countriesJaime Guevara-Aguirre, Carolina Guevara, Alexandra Guevara, Antonio AWD GavilanesBMJ Case Reports CP Feb 2020, 13 (2) e231737; DOI: 10.1136/bcr-2019-231737
- Ehlers-Danlos syndrome presenting with primary nocturnal enuresisMargarida Cunha, Mafalda Matias, Inês MarquesBMJ Case Reports CP Feb 2020, 13 (2) e231977; DOI: 10.1136/bcr-2019-231977
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