Genetics

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlations
Ariane Paoloni-Giacobino, Jean-Louis Blouin, Thierry Nouspikel, Omar Zgheib

BMJ Case Reports CP May 2024, 17 (5) e259475; DOI: 10.1136/bcr-2023-259475
Perrault syndrome: The Way Forward After Genetic Counselling?
Ishan Kapil, Rohit Anand, Phalguni Padhi

BMJ Case Reports CP Mar 2024, 17 (3) e258204; DOI: 10.1136/bcr-2023-258204
Loeys-Dietz syndrome and Goldenhar syndrome unveiled together
Henuka Verma, Prashant Kumar Verma, Nikhil Rajvanshi, Nowneet Kumar Bhat

BMJ Case Reports CP Mar 2024, 17 (3) e256740; DOI: 10.1136/bcr-2023-256740
Lipoid proteinosis; a rare pathology, requiring multidisciplinary input
Matthew Thomas Fenech, Damien Yeo

BMJ Case Reports CP Nov 2023, 16 (11) e257108; DOI: 10.1136/bcr-2023-257108
Delayed diagnosis of a scaling genodermatosis
Clare Harnett, Mohammad Al-Jubouri, Nekma Meah

BMJ Case Reports CP May 2023, 16 (5) e253838; DOI: 10.1136/bcr-2022-253838
Severe skeletal dysplasia caused by a novel FLNB gene mutation
Ichchha Madan, Frank Jackson, Simran Sahni, Reinaldo Figueroa

BMJ Case Reports CP Mar 2024, 17 (3) e257998; DOI: 10.1136/bcr-2023-257998
Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome
Margarita E Polyak, Anna Shestak, Dmitriy Podolyak, Elena Zaklyazminskaya

BMJ Case Reports CP Aug 2020, 13 (8) e235703; DOI: 10.1136/bcr-2020-235703
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)
Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira Lal

BMJ Case Reports CP Mar 2021, 14 (3) e242586; DOI: 10.1136/bcr-2021-242586
Pigmented hypertrichotic dermatosis: manifestations of a rare syndrome
Sanae Sialiti, Siham Mansouri, Mehdi Khallaayoune, Karima Senouci

BMJ Case Reports CP Mar 2021, 14 (4) e241838; DOI: 10.1136/bcr-2021-241838
Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis
Qutaibah Alotaibi, Manjiri Dighe

BMJ Case Reports CP May 2021, 14 (5) e242498; DOI: 10.1136/bcr-2021-242498

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Genetics

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