Literature DB >> 16763964

The expanding panorama of split hand foot malformation.

Donald Basel1, Michael W Kilpatrick, Petros Tsipouras.   

Abstract

The split hand/foot malformation is a developmental defect of the extremities resulting from errors in the initiation and maintenance of the apical ectodermal ridge. The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformation syndrome. This overview describes the clinical phenotype, related animal models, and the evolving genetic heterogeneity of the malformation. (c) 2006 Wiley-Liss, Inc.

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Year:  2006        PMID： 16763964     DOI： 10.1002/ajmg.a.31304

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  8 in total

1.  17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Authors:  Christine M Armour; Dennis E Bulman; Olga Jarinova; Richard Curtis Rogers; Kate B Clarkson; Barbara R DuPont; Alka Dwivedi; Frank O Bartel; Laura McDonell; Charles E Schwartz; Kym M Boycott; David B Everman; Gail E Graham
Journal:  Eur J Hum Genet       Date:  2011-06-01       Impact factor: 4.246

2.  Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

Authors:  Anneke T van Silfhout; Peter C van den Akker; Trijnie Dijkhuizen; Joke B G M Verheij; Maran J W Olderode-Berends; Klaas Kok; Birgit Sikkema-Raddatz; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

3.  4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Authors:  Dunja Niedrist; Iosif W Lurie; Albert Schinzel
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

4.  Cleft foot: A case report and review of literature.

Authors:  Sergey S Leonchuk; Andrey S Neretin; Anthony J Blanchard
Journal:  World J Orthop       Date:  2020-02-18

5.  Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Authors:  Ismat Ghanem
Journal:  J Child Orthop       Date:  2008-04-09       Impact factor: 1.548

6.  Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.

Authors:  Anna Sowińska-Seidler; Monika Piwecka; Ewelina Olech; Magdalena Socha; Anna Latos-Bieleńska; Aleksander Jamsheer
Journal:  J Appl Genet       Date:  2014-10-23       Impact factor: 3.240

7.  Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Authors:  Naeimeh Tayebi; Aleksander Jamsheer; Ricarda Flöttmann; Anna Sowinska-Seidler; Sandra C Doelken; Barbara Oehl-Jaschkowitz; Wiebke Hülsemann; Rolf Habenicht; Eva Klopocki; Stefan Mundlos; Malte Spielmann
Journal:  Orphanet J Rare Dis       Date:  2014-07-29       Impact factor: 4.123

8.  Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Authors:  Xiao Yang; Xinfu Lin; Yaobin Zhu; Jiewei Luo; Genhui Lin
Journal:  Mol Med Rep       Date:  2018-03-29       Impact factor: 2.952
  8 in total

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