COACH syndrome: Report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference44 articles.
1. Congenital hepatic fibrosis in children
2. Renal-hepatic-pancreatic dysplasia: A syndrome reconsidered
3. Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
4. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects
5. Hypoplasia of Cerebellar Vermal Lobules VI and VII in Autism
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1. Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease;Frontiers in Medicine;2024-02-07
2. The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature;Pediatric Transplantation;2023-11-15
3. Dental Management of a Child with Joubert Syndrome;IRAN J CHILD NEUROL;2022
4. Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes;Experimental Eye Research;2020-04
5. Access to transplantation for persons with intellectual disability: Strategies for nondiscrimination;American Journal of Transplantation;2020-01-18
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