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

Ectodermal abnormalities in Kabuki syndrome

M Lerone1, M Priolo, A Naselli

  • 1Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.

American Journal of Medical Genetics
|January 24, 1998
PubMed
Summary
This summary is machine-generated.

Niikawa-Kuroki syndrome (Kabuki syndrome) can manifest with dental and hair abnormalities. This case highlights ectodermal involvement, suggesting a potential role in the syndrome's pathogenesis.

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

Outcomes of Same-sitting bilateral Retrograde IntraRenal Surgery for renal stone in patients aged 70 years and above.

Actas urologicas espanolas·2025
Same author

Very low serum IGF-1 levels are associated with vertebral fractures in adult males with beta-thalassemia major.

Journal of endocrinological investigation·2024
Same author

Temporal trends in the clinical presentation of Graves' orbitopathy: a single-center retrospective study.

Journal of endocrinological investigation·2024
Same author

Successful management of cutaneous BCG dissemination in a child affected by SCID and receiving allogeneic hematopoietic stem cell transplant.

Bone marrow transplantation·2015
Same author

Persistence of high-level (1,3)-β-D-glucan after candidemia following autologous peripheral SCT in a pediatric patient.

Bone marrow transplantation·2014
Same author

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Annals of the rheumatic diseases·2014
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
See all related articles

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Niikawa-Kuroki syndrome (Kabuki syndrome, NKS) is a rare genetic disorder.
  • Dental anomalies, including hypodontia and conical incisors, are recognized features of NKS.
  • Hair abnormalities have not been previously documented in NKS.