Literature DB >> 13953230

Inherited brachydactyly and hypoplasia of the bones of the extremities.

D V HAWS.   

Abstract

Entities:  

Keywords:  HAND DEFORMITIES

Mesh：

Year:  1963        PMID： 13953230     DOI： 10.1111/j.1469-1809.1963.tb01976.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


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  7 in total

1.  Familial Brachydactyly with Variable Expression in Three Family Members.

Authors:  Ankur Singh; Rajniti Prasad; Om Prakash Mishra
Journal:  Indian J Pediatr       Date:  2018-06-14       Impact factor: 1.967

2.  Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Authors:  Katja Stange; Claus-Eric Ott; Mareen Schmidt-von Kegler; Gabriele Gillesen-Kaesbach; Stefan Mundlos; Katarina Dathe; Petra Seemann
Journal:  J Hum Genet       Date:  2015-05-21       Impact factor: 3.172

3.  Brachydactyly type C associated with shortening of the hallux.

Authors:  J M Rowe-Jones; A L Moss; M A Patton
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

4.  Classification and identification of inherited brachydactylies.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

5.  Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

Authors:  V Ventruto; R Di Girlamo; B Festa; A Romano; G Sebastio; L Sebastio
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

6.  Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.

Authors:  Alessandro Castriota-Scanderbeg; Francesco Giuseppe Garaci; Giampiero Beluffi
Journal:  Pediatr Radiol       Date:  2004-11-23

7.  Trisomy 10qter confirmed by in situ hybridisation.

Authors:  V Briscioli; G Floridia; E Rossi; A Selicorni; F Lalatta; O Zuffardi
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318
  7 in total

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