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Last Updated: 10/31/2025
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Found 31 publications
The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.
Journal: Pediatric transplantation
Published: April 03, 2023
Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report
Journal: Zhonghua nei ke za zhi
Published: August 25, 2022
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.
Journal: Nephron
Published: May 05, 2022
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Journal: Journal of medical genetics
Published: May 14, 2020
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.
Journal: Experimental eye research
Published: August 12, 2019
The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature.
Journal: Pediatric dermatology
Published: November 17, 2017
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
Journal: Georgian medical news
Published: July 21, 2017
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: February 03, 2017
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Journal: Scientific reports
Published: January 26, 2017
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Journal: Journal of pediatric genetics
Published: March 03, 2015
Coach syndrome: the first case from Turkey.
Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
Published: February 21, 2015
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.
Journal: Case reports in pediatrics
Published: October 18, 2014
Last Updated: 10/31/2025