Literature DB >> 29396135

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

Madiha Rasheed1, Noreen Karim1, Faiez Ahmed Shah1, Muhammad Naeem2.   

Abstract

Entities:  

Year:  2018        PMID： 29396135     DOI： 10.1016/j.pedneo.2018.01.003

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN： 1875-9572            Impact factor:   2.083


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  2 in total

1.  Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Authors:  Sami Raja Alallasi; Amal A Kokandi; Babajan Banagnapali; Noor Ahmad Shaik; Bandar Ali Al-Shehri; Nuha Mohammad Alrayes; Jumana Yousuf Al-Aama; Musharraf Jelani
Journal:  Front Pediatr       Date:  2019-02-21       Impact factor: 3.418

2.  Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family.

Authors:  Noreen Karim; Javed Iqbal; Muhammad Naeem
Journal:  Ann Dermatol       Date:  2019-08-30       Impact factor: 1.444
  2 in total

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