Genetics

Incidental finding of a BRCA2 variant following whole genome sequencing to molecularly diagnose bilateral congenital cataracts
Cara Heppell, Samantha Malka, Mariya Moosajee

BMJ Case Reports CP Oct 2024, 17 (10) e260755; DOI: 10.1136/bcr-2024-260755
Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features
Vimesh Parmar, Arunkumarendu Singh, Rinkal Madhudiya

BMJ Case Reports CP Oct 2024, 17 (10) e261755; DOI: 10.1136/bcr-2024-261755
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing
Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis

BMJ Case Reports CP Oct 2024, 17 (10) e259792; DOI: 10.1136/bcr-2024-259792
Novel ABCC8 mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemia
Deepthi Kattamanchi, Pradeep Gejjegenahalli Channabasappa Maralusiddappa, Krithika Manne Veerabhadraiah, Sharanabasavesh Mangalgi

BMJ Case Reports CP Sep 2024, 17 (9) e261701; DOI: 10.1136/bcr-2024-261701
Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings
Rashmi Mishra, Naresh Kumar, Arun Bargali, Grisha Maich

BMJ Case Reports CP Jul 2024, 17 (7) e259433; DOI: 10.1136/bcr-2023-259433
Clinicoradiological findings in a case of cleidocranial dysplasia
Disha Shahri, M Suresh Babu, Adarsh Lakkur Siddappa, B S Swathi

BMJ Case Reports CP Jul 2024, 17 (7) e260480; DOI: 10.1136/bcr-2024-260480
Williams–Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion
Adekunle A Olowu

BMJ Case Reports CP Jul 2024, 17 (7) e260312; DOI: 10.1136/bcr-2024-260312
Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation
Meagan Freeman, Nina Fakhori, Danielle Monteil

BMJ Case Reports CP Jun 2024, 17 (6) e260856; DOI: 10.1136/bcr-2024-260856
Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis
Hannah Leigh Helber, Taylor Olmsted Kim, HyoJeong Han

BMJ Case Reports CP Jun 2024, 17 (6) e258295; DOI: 10.1136/bcr-2023-258295
Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia
Kayla Dahlquist, Taylor Meyers, John Paul Schacht, Rebecca Hicks

BMJ Case Reports CP May 2024, 17 (5) e257133; DOI: 10.1136/bcr-2023-257133

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Genetics

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