Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

146
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
146
Sex-linked Disorders01:43

Sex-linked Disorders

101.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
101.8K
Pedigree Analysis01:35

Pedigree Analysis

84.1K
Overview
84.1K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

77
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
77
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

196
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
196
X-linked Traits01:19

X-linked Traits

54.4K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Delgocitinib cream for adolescents with moderate to severe chronic hand eczema (DELTA TEEN): a multicentre, double-blind, phase 3 randomised controlled trial.

The Lancet. Child & adolescent health·2026
Same author

Systemic Janus kinase inhibitors in inflammatory dermatoses: A primer for general practitioners.

Australian journal of general practice·2025
Same author

Characteristics, Disease Burden and Healthcare Resource Use of Moderate and Severe Atopic Dermatitis in Australia.

The Australasian journal of dermatology·2025
Same author

Psychosocial Determinants and Atopic Dermatitis Outcomes: A Cross-Sectional Study From an Australian Paediatric Centre.

The Australasian journal of dermatology·2025
Same author

General dermatology and dermatology in primary healthcare.

Clinical and experimental dermatology·2025
Same author

Early-life protein-bound skin ceramides help predict the development of atopic dermatitis.

The Journal of allergy and clinical immunology·2025
Same journal

Early onset cerebral oedema in adult diabetic ketoacidosis with complete resolution.

BMJ case reports·2026
Same journal

Third salvage haematopoietic stem cell transplantation in a child with very early-onset IBD due to interleukin-10 receptor deficiency.

BMJ case reports·2026
Same journal

Fungal keratitis caused by <i>Trichomonascus ciferrii</i> in an immunocompetent adult.

BMJ case reports·2026
Same journal

An unusual cause of acute small bowel obstruction in a child: multiple trichobezoars diagnosed on CT.

BMJ case reports·2026
Same journal

Massive haemoptysis secondary to pulmonary artery aneurysms in Hughes-Stovin syndrome: a variant of Behçet's disease managed with immunosuppression and endovascular embolisation.

BMJ case reports·2026
Same journal

The blue dilemma: a rare presentation of dual hemoglobinopathy in a pregnant patient.

BMJ case reports·2026
See all related articles

Related Experiment Video

Updated: Jun 14, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

7.8K

Infantile Frey syndrome

Ashling Courtney1,2, John C Su3,2

  • 1Dermatology, Eastern Health Clinical School, Monash University, Box Hill, Victoria, Australia ashlingcourtney1@gmail.com.

BMJ Case Reports
|September 4, 2024
PubMed
Summary

No abstract available in PubMed .

Keywords:
DermatologyImmunologyObstetrics, gynaecology and fertilityPaediatrics (drugs and medicines)

More Related Videos

Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards
08:38

Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards

Published on: September 3, 2020

6.0K
Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.2K

Related Experiment Videos

Last Updated: Jun 14, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

7.8K
Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards
08:38

Electroretinogram Recording for Infants and Children under Anesthesia to Achieve Optimal Dark Adaptation and International Standards

Published on: September 3, 2020

6.0K
Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.2K