Literature DB >> 4691259

Bilateral tibial aplasia with lobster-claw hands. A rare genetic entity.

W A Mnaymneh.   

Abstract

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Year:  1973        PMID： 4691259     DOI： 10.1111/j.1651-2227.1973.tb08070.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


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  4 in total

1.  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

2.  Bilateral split-hand with bilateral tibial aplasia.

Authors:  R N Sener; E Isikan; H B Diren; B S Sayli; F Sener
Journal:  Pediatr Radiol       Date:  1989

Review 3.  Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia.

Authors:  R N Sener; B S Sayli; U E Isikan; A R Ormeci; M Unsal; M Tigdemir
Journal:  Pediatr Radiol       Date:  1990

4.  Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.

Authors:  F Majewski; W Küster; B ter Haar; T Goecke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  4 in total

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