Literature DB >> 2918544

Is there an autosomal recessive form of the split hand and split foot malformation?

J Zlotogora1, N Nubani.   

Abstract

A family is described in which four subjects in two sibships had typical split hand/foot malformation. The possibility of the existence of a rare autosomal recessive form of the malformation is discussed, as well as a two locus model. In the two locus model the dominant mutation leading to the split hand/foot malformation is controlled by a gene at another locus. A dominant mutation at the controlling locus leads to non-penetrance of the split hand/foot mutation.

Mesh:

Year:  1989        PMID: 2918544      PMCID: PMC1015567          DOI: 10.1136/jmg.26.2.138

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


  3 in total

1.  Split-hand and split-foot deformity inherited as an autosomal recessive trait.

Authors:  I C Verma; R Joseph; S Bhargava; S Mehta
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

2.  A recessive form of ectrodactyly, and its implications in genetic counseling.

Authors:  A Freire-Maia
Journal:  J Hered       Date:  1971 Jan-Feb       Impact factor: 2.645

3.  Dactylaplasia in mice a two-locus model for development anomalies.

Authors:  C K Chai
Journal:  J Hered       Date:  1981 Jul-Aug       Impact factor: 2.645

  3 in total
  3 in total

1.  Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Authors:  R S Ozen; B E Baysal; B Devlin; J E Farr; M Gorry; G D Ehrlich; C W Richard
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

2.  Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

Authors:  Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al-Ali; Najib Al-Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
Journal:  Am J Hum Genet       Date:  2006-11-29       Impact factor: 11.025

3.  Ectrodactyly/split hand feet malformation.

Authors:  Geetanjali Jindal; Veena R Parmar; Vipul Kumar Gupta
Journal:  Indian J Hum Genet       Date:  2009-09
  3 in total

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