Genetics

GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations
Mollie Helena McMahon, Nasim Tahir, Meena Balasubramanian

BMJ Case Reports CP Jun 2022, 15 (6) e246114; DOI: 10.1136/bcr-2021-246114
Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome
Elizabeth Kudlaty, Neha Agnihotri, Amer Khojah

BMJ Case Reports CP Jun 2022, 15 (6) e249254; DOI: 10.1136/bcr-2022-249254
Prenatal diagnosis of fetal hemivertebra at 12 weeks of gestation
Diana Monteiro, Inês Sarmento Gonçalves, Cristina Godinho, Rosete Novais Nogueira

BMJ Case Reports CP Jun 2022, 15 (6) e251293; DOI: 10.1136/bcr-2022-251293
Thoracic venous malformation: a particular form of a visceral variant
Inês Pessanha, Paloma Triana, Victor Martinez-Glez, Juan Carlos Lopez-Gutierrez

BMJ Case Reports CP Jun 2022, 15 (6) e250307; DOI: 10.1136/bcr-2022-250307
Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma
Eunji Yim, Denise Leung

BMJ Case Reports CP Jun 2022, 15 (6) e249837; DOI: 10.1136/bcr-2022-249837
Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction
Toru Sasaki, Ryutaro Onaga, Ryota Koshu

BMJ Case Reports CP Jun 2022, 15 (6) e250990; DOI: 10.1136/bcr-2022-250990
Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association
Clara Smith, David Hamilton, Stuart Waterston

BMJ Case Reports CP May 2022, 15 (5) e248076; DOI: 10.1136/bcr-2021-248076
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus
Alexandros Leonidas Liarakos, Patrick Tran, Ranganatha Rao, Narasimha Murthy

BMJ Case Reports CP May 2022, 15 (5) e250350; DOI: 10.1136/bcr-2022-250350
Coats-plus syndrome: when imaging leads to genetic diagnosis
Carolina Maia, Mariana Batista, Filipe Palavra, Joana Pinto

BMJ Case Reports CP May 2022, 15 (5) e249702; DOI: 10.1136/bcr-2022-249702
Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
Surabhi Dogra, Karunesh Kumar, Smita Malhotra, Anupam Sibal

BMJ Case Reports CP May 2022, 15 (5) e245884; DOI: 10.1136/bcr-2021-245884

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Genetics

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