A NEW SLC10A7 HOMOZYGOUS MISSENSE MUTATION RESPONSIBLE FOR A MILDER PHENOTYPE OF SKELETAL DYSPLASIA WITH AMELOGENESIS IMPERFECTA

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects.More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017).Whole-exome sequencing was performed in TUMERIC CINNAMON a consanguineous family.The affe

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Movement disorders in inherited metabolic diseases in children

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders.Important clues to the presence of Plug an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair c

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Analytical and numerical investigation of Darcy-Forchheimer flow of a nonlinear-radiative non-Newtonian fluid over a Riga plate with entropy optimization

The effects of the Riga plate flow of Williamson fluid with a Darcy-Forchheimer medium and suction/injection are Holy Basil explained in this study.Convective heat and mass circumstances are considered.The energy and concentration equations are developed using Catteneo-Christov dual theory.The heat transfer attributes are analyzed via heat consumpt

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