HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

Abstract
Gene identification for X-linked dominant sporadic disorders is challenging because no extended families exist that can be studied by linkage analysis. Therefore, classic positional cloning approaches are not possible, and other methods have to be used to search for candidate genes. These conditions present the next challenge for disease-gene identification of Mendelian disorders. The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (focal dermal hypoplasia).
AuthorsI B Van den Veyver
JournalCytogenetic and genome research (Cytogenet Genome Res) Vol. 99 Issue 1-4 Pg. 289-96 ( 2002) ISSN: 1424-859X [Electronic] Switzerland
PMID12900577 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
CopyrightCopyright 2002 S. Karger AG, Basel
Topics
  • Adolescent
  • Animals
  • Basal Ganglia Diseases (genetics, pathology)
  • Calcinosis (pathology)
  • Diagnosis, Differential
  • Disease Models, Animal
  • Focal Dermal Hypoplasia (genetics, pathology)
  • Genes, Dominant (genetics)
  • Genetic Diseases, X-Linked (genetics, pathology)
  • Humans
  • Male
  • Mice
  • Microphthalmos (genetics, pathology)
  • Skin Abnormalities
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: