Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

The electromagnetic spectrum consists of all the types of electromagnetic radiation arranged according to their frequency and wavelength. Each of the various colors of visible light has specific frequencies and wavelengths associated with them, and you can see that visible light makes up only a small portion of the electromagnetic spectrum. Because the technologies developed to work in various parts of the electromagnetic spectrum are different, for reasons of convenience and historical...

Electromagnetic waves are categorized according to their wavelengths and frequencies, giving the electromagnetic spectrum. These waves are classified as radio, infrared, ultraviolet, etc. Radio waves refer to electromagnetic radiation with wavelengths ranging from millimeters to kilometers. Radio waves are commonly used for audio communications (i.e., radios) and typically result from an alternating current in the wires of a broadcast antenna. They cover a broad wavelength range and are used...

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Sigmund Freud's theory of psychosexual development describes the anal stage as occurring between 18 months and three years of age. During this period, children derive pleasure from controlling and releasing their bowel movements. However, they quickly learn that societal expectations impose restrictions on when and where this can happen. This stage marks a critical point where children begin to develop a sense of control and mastery over their bodily functions, as well as their broader...