Related Experiment Video

Updated: Aug 1, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

3.8K

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect

John Perreault1, F Dennison Porter1, Małgorzata J M Nowaczyk2

  • 1Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA.

American Journal of Medical Genetics. Part A
|February 24, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
creatine transporterdevelopmental delaydysmorphology

More Related Videos

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

877
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

306

Related Experiment Videos

Last Updated: Aug 1, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

3.8K
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

877
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

306

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal of inherited metabolic disease·2026

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.

Life science alliance·2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

medRxiv : the preprint server for health sciences·2026

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i3Neurons as a model for NPC1 disease.

bioRxiv : the preprint server for biology·2026

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

Journal of inherited metabolic disease·2025

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.

Human gene therapy·2025

A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.

American journal of medical genetics. Part A·2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

American journal of medical genetics. Part A·2026

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

American journal of medical genetics. Part A·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

American journal of medical genetics. Part A·2026

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.

American journal of medical genetics. Part A·2026

Effects of everyday discrimination on sexual minority people's experiences of health care stereotype threat.

Social science & medicine (1982)·2026

Individual and differential harm in redistricting.

Nature human behaviour·2026

Racial disparities in substance use among youth involved in bullying in Canada: A brief report.

Journal of ethnicity in substance abuse·2026

Interrogating Structural Racism When Doing Health Research in Canada: Using the Public Health Critical Race Praxis (PHCRP) as a Guiding Framework.

Journal of immigrant and minority health·2026

Geographic Isolation, Compelled Mobility, and Adolescent Risk Behavior.

Urban studies (Edinburgh, Scotland)·2026

Where racial and ethnic disparities in policing come from: The spatial concentration of arrests across six cities.

Criminology & public policy·2026
See all related articles
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
Jove
Visualize
Contact Us