Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
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DOI: 10.1002/jcp.30788
Abstract: TMEM67 (mecklin or MKS3) locates in the transition zone of cilia. Dysfunction of TMEM67 disrupts cilia‐related signaling and leads to developmental defects of multiple organs in humans. Typical autosomal recessive TMEM67 defects cause partial overlapping… read more here.
Keywords: cholestasis; tmem67 variants; tmem67; glutamyl transpeptidase ... See more keywords