‘No causative variants found’: an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testingPatricia A Wells, Anna P Basu, Laura M Yates
21 January 2025
Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblingsXiaoxian Cui, Haiqiong Yu, Hui Liu, Jianquan Zhang
21 January 2025
Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosisAnne Drasbech Gundersen, Morten Hornemann Borg, Anders Løkke, Ole Hilberg
27 December 2024
Kabuki syndrome: a comprehensive clinical portrait and genetic insightMario Alberto Maldonado-Muñoz, Alejandro Gavino-Vergara, Daniela Rebolledo-Solleiro
24 December 2024
Child with KBG syndromeBadiginchala Naga Jyothi, Sumathi Angel, Chinthalapalli Prakash Ravi Kumar, Parag M Tamhankar
4 December 2024
20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolonGuangxian Yang, Wenwen Fan, Ni Yin, Zhiping Tan
7 November 2024
Variable expressivity of Malan syndromeAtanu Kumar Dutta
17 October 2024
Incidental finding of a BRCA2 variant following whole genome sequencing to molecularly diagnose bilateral congenital cataractsCara Heppell, Samantha Malka, Mariya Moosajee
11 October 2024
Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid featuresVimesh Parmar, Arunkumarendu Singh, Rinkal Madhudiya
2 October 2024
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencingAmy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis
1 October 2024
