Document Detail


Polydactyly and genes.
MedLine Citation:
PMID:  20177829     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pediatricians deal with cases with the congenital malformations and malformation syndromes interest many of them. A lot of information about genes involved in development is available now. Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is studied and what is known. Genetic and chromosomal defects are often associated with congenital malformations. Polydactyly is one of the commonly seen malformations and genetic defects of many malformation syndromes associated with polydactyly are known. The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article.
Authors:
Shubha R Phadke; V H Sankar
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Publication Detail:
Type:  Journal Article; Review     Date:  2010-02-22
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  77     ISSN:  0973-7693     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-05-21     Completed Date:  2010-09-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  277-81     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
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MeSH Terms
Descriptor/Qualifier:
Fingers / abnormalities*
Genotype
Humans
Mutation
Phenotype
Polydactyly / genetics*

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