Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
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ABSTRACT:
SUBMITTER: Malechka VV
PROVIDER: S-EPMC9140808 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Publications
Clinical Phenotypes of <i>CDHR1</i>-Associated Retinal Dystrophies.
Malechka Volha V VV Cukras Catherine A CA Chew Emily Y EY Sergeev Yuri V YV Blain Delphine D Jeffrey Brett G BG Ullah Ehsan E Hufnagel Robert B RB Brooks Brian P BP Huryn Laryssa A LA Zein Wadih M WM
Genes 20220522 5
The retinal dystrophy phenotype associated with <i>CDHR1</i> retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive <i>CDHR1</i> and report novel variants in populations not previously identified with <i>CDHR1</i>-related retinopathy. Seven patients had evaluations covering at least a three-year period. The mean age of individuals at first symptoms was 36 ± 8.5 years (ran ...[more]
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