Literature DB >> 28983987

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.

A Diociaiuti1, E Pisaneschi2, G Zambruno1, A Angioni2, A Novelli2, R Boldrini3, M El Hachem1.   

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Year:  2017        PMID： 28983987     DOI： 10.1111/jdv.14618

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  4 in total

1.  Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Authors:  Farooq Ahmad; Ishtiaq Ahmed; Qamre Alam; Tanveer Ahmad; Ammara Khan; Ijaz Ahmad; Muhammad Bilal; Amir Hayat; Amjad Khan; Ahmed Waqas; Misbahuddin M Rafeeq; Ziaullah M Sain; Muhammad Umair
Journal:  Mol Syndromol       Date:  2021-08-24

2.  Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Authors:  Andrea Diociaiuti; Diego Martinelli; Francesco Nicita; Claudia Cesario; Elisa Pisaneschi; Marina Macchiaiolo; Sabrina Rossi; Angelo Giuseppe Condorelli; Giovanna Zambruno; May El Hachem
Journal:  Genes (Basel)       Date:  2021-02-26       Impact factor: 4.096

Review 3.  PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.

Authors:  Fansi Zeng; Wenzhen Qin; Feifei Huang; Pingan Chang
Journal:  Metabolites       Date:  2022-07-26

4.  Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Authors:  Liangshan Li; Wenmiao Liu; Yinglei Xu; Miaomiao Li; Qian Tang; Bo Yu; Renmei Cai; Shiguo Liu
Journal:  Mol Genet Genomic Med       Date:  2019-12-13       Impact factor: 2.183
  4 in total

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