Literature DB >> 29230504

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX.

Sajid Malik1.   

Abstract

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Year:  2017        PMID： 29230504     DOI： 10.1007/s00256-017-2842-z

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


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  5 in total

1.  Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Authors:  Sajid Malik; Ferda E Percin; Wasim Ahmad; Sitki Percin; Nurten A Akarsu; Manuela C Koch; Karl-Heinz Grzeschik
Journal:  Am J Med Genet A       Date:  2005-05-01       Impact factor: 2.802

Review 2.  Syndactyly: phenotypes, genetics and current classification.

Authors:  Sajid Malik
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

3.  Case report of a novel nonsyndromic unilateral syndactyly of the hand.

Authors:  Julius Matthias Weinrich; Waleed Ajabnoor; Peter Bannas
Journal:  Skeletal Radiol       Date:  2017-07-26       Impact factor: 2.199

4.  Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Authors:  Sajid Malik; Ferda E Percin; Dorothea Bornholdt; Beate Albrecht; Antonio Percesepe; Manuela C Koch; Antonio Landi; Barbara Fritz; Rizwan Khan; Sara Mumtaz; Nurten A Akarsu; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

5.  A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Authors:  Sajid Malik; Muhammad Arshad; Muhammad Amin-Ud-Din; Frank Oeffner; Astrid Dempfle; Sayedul Haque; Manuela C Koch; Wasim Ahmad; Karl-Heinz Grzeschik
Journal:  Am J Med Genet A       Date:  2004-04-01       Impact factor: 2.802
  5 in total
  1 in total

Review 1.  Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Authors:  Afraah Cassim; Dineshani Hettiarachchi; Vajira H W Dissanayake
Journal:  Orphanet J Rare Dis       Date:  2022-05-12       Impact factor: 4.303
  1 in total

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