Literature DB >> 28223207

"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.

Natália D Linhares1, Maíra C M Freire2, Raony G C C L Cardenas1, Heloísa B Pena3, Magda Bahia4, Sergio D J Pena5.   

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Year:  2017        PMID： 28223207     DOI： 10.1016/j.ejmg.2017.02.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


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  3 in total

1.  Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Authors:  Giuseppe Marangi; Simone Garcovich; Gabriele Di Sante; Daniela Orteschi; Silvia Frangella; Franco Scaldaferri; Maurizio Genuardi; Ketty Peris; Fiorella Gurrieri; Marcella Zollino
Journal:  Acta Derm Venereol       Date:  2020-01-23       Impact factor: 3.875

Review 2.  Epstein-Barr Virus+ Smooth Muscle Tumors as Manifestation of Primary Immunodeficiency Disorders.

Authors:  Thomas Magg; Tilmann Schober; Christoph Walz; Julia Ley-Zaporozhan; Fabio Facchetti; Christoph Klein; Fabian Hauck
Journal:  Front Immunol       Date:  2018-02-27       Impact factor: 7.561

3.  Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.

Authors:  Mara Cananzi; Aleixo M Muise; Luca Bosa; Vritika Batura; Davide Colavito; Karoline Fiedler; Paola Gaio; Conghui Guo; Qi Li; Antonio Marzollo; Claudia Mescoli; Ryusuke Nambu; Jie Pan; Giorgio Perilongo; Neil Warner; Shiqi Zhang; Daniel Kotlarz; Christoph Klein; Scott B Snapper; Thomas D Walters; Alberta Leon; Anne M Griffiths
Journal:  Sci Rep       Date:  2021-03-15       Impact factor: 4.379
  3 in total

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