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PedAM

Pediatric Disease Annotations & Medicines




Disease retinal degeneration
Phenotype C0028754|obesity
Sentences 5
PubMedID- 24690487 Early onset retinal degeneration associated with obesity represents a diagnostic challenge in paediatric and genetic practice, although the absence of skeletal abnormalities and developmental delay could facilitate clinical diagnosis.
PubMedID- 26273430 Bbs10−/− mice developed obesity, retinal degeneration, structural defects in the glomeruli, polyuria associated with high circulating arginine vasopressin (avp) concentrations, and vacuolated, yet ciliated, renal epithelial cells.
PubMedID- 22500027 The pleiotropic features of obesity, retinal degeneration, polydactyly, kidney abnormalities, cognitive impairment, hypertension, and diabetes found in bardet-biedl syndrome (bbs) make this disorder an important model disorder for identifying molecular mechanisms involved in common human diseases.
PubMedID- 22004009 Introduction: early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice.
PubMedID- 24068974 Loss-of-function of the tubby gene exhibits adult-onset obesity, retinal degeneration, and hearing loss in mice.

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