Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

doi:10.1002/ajmg.a.70201

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Article

Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

American journal of medical genetics. Part A - 1 Oct 2026

Kwon Yiyoung, Kim Sukyung, Kim Yoon Zi, Jeong Tae Jong, Im Minji, Ha Sang Yun, Jeon Tae Yeon, Choe Yon Ho, Cho Sung Yoon, Kim Mi Jin, Choi Gyu-Seong, Lee Sanghoon

Abstract excerpt

Myhre syndrome is a rare autosomal-dominant disorder caused by gain-of-function pathogenic variants in SMAD4 and is now recognized as a progressive multisystem fibrotic disease. Although transforming growth factor-β (TGF-β) signaling plays a central role in hepatic fibrogenesis, hepatobiliary involvement in Myhre syndrome has not been systematically evaluated. We report the first case of Myhre syndrome...

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Topics

Humans
Male
Liver Transplantation
Smad4 Protein
Adolescent
Liver Cirrhosis, Biliary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Liver

Hand Deformities, Congenital

Cryptorchidism

Intellectual Disability

Growth Disorders

Facies

Transforming Growth Factor beta

Mutation

Source

Open in PubMed

Identifiers

PMID: 42135274
DOI: 10.1002/ajmg.a.70201

Genes

SMAD4

Variants

Provenance

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