Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics – Clinical Principles and Applications (2023) Reed E. Pyeritz

Description

A comprehensive clinical reference focusing on medical genetics and genomics. Topics include the clinical approach to the dysmorphic child, clinical teratology, neurodevelopmental disabilities (including intellectual disability and autism spectrum disorders), abnormal body size and proportion, diagnostic methods such as cytogenetic analysis and molecular genetics (WES/WGS), and therapies for genetic disorders like Lysosomal Storage Diseases.