Genetic screening / counselling

Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype
Alamin Alkundi, Rabiu Momoh

BMJ Case Reports CP Mar 2023, 16 (3) e252362; DOI: 10.1136/bcr-2022-252362
Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)
Inês Gouveia, Ana Filipa Geraldo, Cristina Godinho, Sérgio Castedo

BMJ Case Reports CP Mar 2023, 16 (3) e254366; DOI: 10.1136/bcr-2022-254366
Two siblings with a rare type of maturity-onset diabetes of the young (MODY)
Fatima Riyadh Alhakim, Haya AlKhayyat

BMJ Case Reports CP Feb 2023, 16 (2) e249362; DOI: 10.1136/bcr-2022-249362
Fetal hemivertebra: a rare form of 18q deletion prenatal presentation
Mafalda Laranjo, Márcia Marinho, Conceição Brito, Cristina Godinho

BMJ Case Reports CP Feb 2023, 16 (2) e251914; DOI: 10.1136/bcr-2022-251914
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
Shobitha Vollmer, Per Katzman, Magnus Londahl

BMJ Case Reports CP Feb 2023, 16 (2) e254274; DOI: 10.1136/bcr-2022-254274
Successful outcome in a compound heterozygote haemoglobin E/beta-thalassaemia in pregnancy
Kalika Dubey, Charu Sharma, Suma Shet, Shashank Shekhar

BMJ Case Reports CP Feb 2023, 16 (2) e252829; DOI: 10.1136/bcr-2022-252829
NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?
Ahmed El-Medany, Shahid Aziz, Edward Duncan

BMJ Case Reports CP Jan 2023, 16 (1) e252523; DOI: 10.1136/bcr-2022-252523
Use of tissue samples in diagnosing diploid triploid mosaicism
Oisín Mahon, Áine Fox, Sally Ann Lynch, Katie Cunningham

BMJ Case Reports CP Dec 2022, 15 (12) e252779; DOI: 10.1136/bcr-2022-252779
Somatic gene mutations in malignant steroid cell tumours and response to multiple treatments
Kazuho Nakanishi, Tomoaki Fukagawa, Takashi Yamada, Shunji Suzuki

BMJ Case Reports CP Dec 2022, 15 (12) e248486; DOI: 10.1136/bcr-2021-248486
Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant
Michelle Robyn Schneeweiss, Breanne Dale, Resham Ejaz

BMJ Case Reports CP Dec 2022, 15 (12) e248995; DOI: 10.1136/bcr-2022-248995

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Genetic screening / counselling

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