Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease associationClara Smith, David Hamilton, Stuart Waterston
25 May 2022
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetusAlexandros Leonidas Liarakos, Patrick Tran, Ranganatha Rao, Narasimha Murthy
20 May 2022
Coats-plus syndrome: when imaging leads to genetic diagnosisCarolina Maia, Mariana Batista, Filipe Palavra, Joana Pinto
17 May 2022
Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarcaSurabhi Dogra, Karunesh Kumar, Smita Malhotra, Anupam Sibal
13 May 2022
Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literatureShima Chundoo, David M McGoldrick, Rhodri Williams, Kevin McMillan
12 May 2022
Early renal failure in childhood in a male with Fabry diseaseJosephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, Uma Ramaswami
10 May 2022
Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOXLeticia Estefania Campoverde, Felipe Batalini, Yarab Bulushi, Andrea Bullock
29 April 2022
RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome familiesKelly Fulk, Morgan Turner, Amanda Eppolito, Rebekah Krukenberg
29 April 2022
Acquired long QT syndrome due to antiemetics, COVID-19 and Blastocystis hominis induced exacerbation of congenital chloride losing diarrhoeaRajkumar Rajendram, Ahmed Abdullah Alghamdi, Mohammed Ayed Alanazi
26 April 2022
Prenatal diagnosis of craniorachischisis totalisPaulina Costa, Andreia Fontoura Oliveira, António Baptista Vilaça
25 April 2022
