Rare monogenic disorders often exhibit significant phenotypic variability among individuals sharing identical genetic mutations. Bruck syndrome (BS), a prime example, is characterized by bone fragility and congenital contractures, although with a pronounced variability among family members. BS arises from recessive biallelic mutations in FKBP10 or PLOD2.
View Article and Find Full Text PDFZebrafish and other small laboratory fishes are emerging as important animal models for investigating human skeletal development and diseases. In recent years, there has been a notable increase in research publications employing X-ray radiography and micro-computed tomography to analyze the skeletal structures of these animals. However, evaluating bone morphology and mineral density in small laboratory fish poses unique challenges compared to well-established small rodent models.
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