Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the Gene.

Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.

Helminths Infecting Sympatric Congeneric Treefrogs in Northeastern Brazil.

Purpose: We aimed to describe the helminth fauna associated with two sympatric congeneric treefrogs species (Boana multifasciata and Boana raniceps) from a highland marsh in northeastern Brazil. In addition, we investigate the body size influence on parasitological descriptors in these treefrogs, in which we expected that larger frogs would have greater abundance and richness helminths too, and no differences with respect to helminth composition once both hosts are exposed to similar environmental conditions.

Methods: We collected anurans during the rainy season from 11 January to 09 February 2019, using visual and auditory searches in breeding environments.

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant.

Scoring Cercospora Leaf Spot on Sugar Beet: Comparison of UGV and UAV Phenotyping Systems.

Selection of sugar beet (Beta vulgaris L.) cultivars that are resistant to Cercospora Leaf Spot (CLS) disease is critical to increase yield. Such selection requires an automatic, fast, and objective method to assess CLS severity on thousands of cultivars in the field.