Genetic screening / counselling

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
Saikat Patra, Garima Goyal, Yasir Ahmad Lone, Girish Gupta

BMJ Case Reports CP May 2023, 16 (5) e255561; DOI: 10.1136/bcr-2023-255561
Bullous eruptions in transient abnormal myelopoiesis with normal phenotype
Madhusudhan Demahalli Shivamallappa, Anna Mullins, Kathryn Browning Carmo

BMJ Case Reports CP Apr 2023, 16 (4) e251523; DOI: 10.1136/bcr-2022-251523
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

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Genetic screening / counselling

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