Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Distal limb malformations: underlying mechanisms and clinical associations. Clin Genet 2001 Sep;60(3):165-72 PMID: 11595015

Pubmed ID



Congenital malformations of the extremities are conspicuous and have been described through the ages. Over the past decade, a wealth of knowledge has been generated regarding the genetic regulation of limb development and the underlying molecular mechanisms. Recent studies have identified several of the signaling molecules, growth factors, and transcriptional regulators involved in the initiation and maintenance of the apical ectodermal ridge (AER) as well as the molecular markers defining the three axes of the developing limb. Studies of abnormal murine phenotypes have uncovered the role played by genes such as p63 and Dactylin in the maintenance of AER activity. These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.

Author List

Sifakis S, Basel D, Ianakiev P, Kilpatrick M, Tsipouras P


Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin


2-s2.0-0034775067   28 Citations

MESH terms used to index this publication - Major topics in bold

DNA-Binding Proteins
F-Box Proteins
Genes, Tumor Suppressor
Limb Deformities, Congenital
Membrane Proteins
Mice, Knockout
Models, Biological
Models, Genetic
Signal Transduction
Transcription Factors
Tumor Suppressor Proteins
jenkins-FCD Prod-296 4db9d02597e0a2e889e230f853b641c12f1c3ee3