![](/images/graphics-bg.png)
Zone of Polarizing Activity Regulatory Sequence MutationsDuplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis
Author
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-02-13
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities.
Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype.
However, some of these mutations/duplications also have LPAD in the phenotype.
This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature.
The author reviews this unusual entity and gives insights regarding its pathogenesis.
American Psychological Association (APA)
al-Qattan, Mohammad M.. 2018. Zone of Polarizing Activity Regulatory Sequence MutationsDuplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. BioMed Research International،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1124481
Modern Language Association (MLA)
al-Qattan, Mohammad M.. Zone of Polarizing Activity Regulatory Sequence MutationsDuplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. BioMed Research International No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1124481
American Medical Association (AMA)
al-Qattan, Mohammad M.. Zone of Polarizing Activity Regulatory Sequence MutationsDuplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1124481
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1124481