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Article

Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Nov 2022

Hsieh Pei-Feng, Liu Shih-Yao, Chen Chih-Hao, Chen Pei-Lung, Tang Sung-Chun, Jeng Jiann-Shing

Abstract excerpt

Hereditary cerebral cavernous malformations (CCMs) are characterized by clustered dilated capillary-like vessels in the brain. Autosomal dominant polycystic kidney disease (PKD) is characterized by renal cysts and extra-renal abnormalities. We report a Taiwanese family in which the index case exhibited coexisting phenotypes of both CCMs and PKD. The index case was a 55-year-old woman with known PKD who developed...

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PMID: 35370030
DOI: 10.1016/j.jfma.2022.03.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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