Literature DB >> 19305023

[Genetic background of isolated forms of congenital malformations of the hand].

Aleksander Jamsheer1.   

Abstract

Congenital hand malformations comprise a clinically and etiologically heterogeneous group of developmental anomalies. They may occur as an isolated trait or be a part of a syndrome. In recent years, enormous progress in revealing the molecular background of congenital hand anomalies has been made. It proved helpful for better understanding of function of the genes responsible for embroynic limb development in humans. This review presents a classification of hand malformations, which takes into account not only differences of anatomic and morphological origin, but also distinct genetic background. Since there is an abundance of syndromes with congenital hand anomalies, the paper is focused mainly on the non-syndromic hand malformations and their genetic etiology.

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Year:  2008        PMID: 19305023

Source DB:  PubMed          Journal:  Med Wieku Rozwoj


  3 in total

1.  Split-Hand Malformation in a 4-Year-Old Child.

Authors:  Girish Gulab Meshram; Kanwaljeet Singh Hura; Neeraj Kaur
Journal:  Case Rep Pediatr       Date:  2017-08-03

2.  A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.

Authors:  Hao Geng; Dongdong Tang; Chuan Xu; Xiaojin He; Zhiguo Zhang
Journal:  Biomed Res Int       Date:  2020-11-26       Impact factor: 3.411

Review 3.  Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Authors:  Anna Sowińska-Seidler; Magdalena Socha; Aleksander Jamsheer
Journal:  J Appl Genet       Date:  2013-10-27       Impact factor: 3.240

  3 in total

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