Literature DB >> 27085093

Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1.

Asmat Ullah1, Muhammad Farhat Ullah2, Zafar Mahmood Khalid2, Wasim Ahmad1.   

Abstract

Keywords:  zzm321990distal-less homeobox 5zzm321990; Sanger sequencing; autosomal dominant; frameshift variant; split hand/foot malformation

Year:  2016        PMID： 27085093     DOI： 10.1111/ped.13023

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  4 in total

1.  A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.

Authors:  Asmat Ullah; Anam Hammid; Muhammad Umair; Wasim Ahmad
Journal:  Mol Syndromol       Date:  2016-12-20

Review 2.  Limb development: a paradigm of gene regulation.

Authors:  Florence Petit; Karen E Sears; Nadav Ahituv
Journal:  Nat Rev Genet       Date:  2017-02-06       Impact factor: 53.242

3.  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

4.  Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.

Authors:  Asmat Ullah; Ajab Gul; Muhammad Umair; Farooq Ahmad; Abdul Aziz; Abdul Wali; Wasim Ahmad
Journal:  Genet Mol Biol       Date:  2018-01-22       Impact factor: 1.771
  4 in total

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