Genetics

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
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
Challenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenoma
Nelson Carvalho Cunha, Leonor Gomes, Margarida Bastos

BMJ 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 tropics
Jagadeesh Menon, Vybhav Venkatesh, Balamurugan Thirunavukkarasu, Sadhna Bhasin Lal

BMJ 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 disease
Chinenye Rebecca Dike, John Bernat, Warren Bishop, Catherine DeGeeter

BMJ Case Reports CP Jul 2019, 12 (7) e229780; DOI: 10.1136/bcr-2019-229780
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
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK
Alexander Freethy, Vikas Acharya, Aphrodite Iacovidou, Ali Taghi

BMJ Case Reports CP Dec 2019, 12 (12) e231809; DOI: 10.1136/bcr-2019-231809
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
Anaesthetic management of a parturient with spondylothoracic dysostosis
Reine Zbeidy, Nathalia Torres Buendia, Fouad G Souki

BMJ Case Reports CP Jan 2020, 13 (1) e232964; DOI: 10.1136/bcr-2019-232964
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

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Genetics

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