Genetics

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
De novo monocytic-M5b AML with t(8;16) (p11.2; p13.3) KAT6A/CREBBP fusion and FLT3-TKD mutation complicated by chemotherapy-induced Takotsubo cardiomyopathy
Anil Ananthaneni, Taras Benzar, Nazar Hafiz, Hugo Akabane

BMJ Case Reports CP Mar 2023, 16 (3) e253812; DOI: 10.1136/bcr-2022-253812
Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
Michael Lane, Nicholas M Allen, Johannes Letshwiti

BMJ Case Reports CP Mar 2023, 16 (3) e253035; DOI: 10.1136/bcr-2022-253035
Novel mutation causing Zellweger syndrome
Sasidharan Adiyapatham, Ambalakkuthan Murugesan

BMJ Case Reports CP Mar 2023, 16 (3) e252014; DOI: 10.1136/bcr-2022-252014
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman
Prithivi Raaj Prakash, Gaurav Gupta, Mukul Aggarwal, Upendra Baitha

BMJ Case Reports CP Mar 2023, 16 (3) e253878; DOI: 10.1136/bcr-2022-253878
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
Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood
Yaja Jebaying, Karunesh Kumar, Smita Malhotra, Anupam Sibal

BMJ Case Reports CP Feb 2023, 16 (2) e245852; DOI: 10.1136/bcr-2021-245852

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Genetics

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