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 Experiment Videos

Previously unrecognized congenital progeroid disorder.

E M Petty1, R Laxova, H R Wiedemann

  • 1Department of Pediatrics, University of Wisconsin-Madison Medical School.

American Journal of Medical Genetics
|March 1, 1990
PubMed
Summary

This study details a rare progeroid disorder in a child and an adult, highlighting shared symptoms like growth retardation and premature aging. Their distinct presentation suggests a potentially new genetic disorder entity.

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

The Amish: Perceptions of genetic disorders and services.

Journal of genetic counseling·2013
Same author

Direct molecular diagnosis of multiple endocrine neoplasia type 1.

Methods in molecular medicine·2011
Same author

Conquering the complex world of human septins: implications for health and disease.

Clinical genetics·2010
Same author

On the subject: Incidents with sternal puncture.

Medizinische Klinik·2010
Same author

Deadly lead poisoning of a 12-week-old breast child.

Archiv fur Kinderheilkunde·2010
Same author

About Infant Meningitis.

Deutsche medizinische Wochenschrift (1946)·2010

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Progeroid syndromes are rare genetic disorders characterized by premature aging.
  • Previous cases of progeroid disorders have diverse clinical presentations and genetic etiologies.
  • Atypical presentations necessitate further investigation to define distinct disease entities.