Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
Author:
Publisher
Wiley
Subject
Genetics(clinical)
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1. Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders;Cureus;2023-05-07
2. 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;Nephron;2023-01-06
3. An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD);Journal of Pediatric Neurology;2023-01-05
4. Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies;Journal of Medical Genetics;2020-09-11
5. Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes;Experimental Eye Research;2020-04
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