Literature DB >> 712761

Linkage analysis in dominant acrocephalosyndactyly.

J R Eastman, V Escobar, D Bixler.   

Abstract

Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in multiple cases in multiple generations.

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Year:  1978        PMID： 712761      PMCID： PMC1013700          DOI： 10.1136/jmg.15.4.292

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Acrocephalopolysyndactyly, type Noack, in a large kindred.

Authors:  M Robinow; T J Sorauf
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  A general model for the genetic analysis of pedigree data.

Authors:  R C Elston; J Stewart
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

4.  Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Authors:  C E Jackson; L Weiss; W A Reynolds; T F Forman; J A Peterson
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406

5.  The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis.

Authors:  V Escobar; D Bixler
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438
  5 in total

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