Literature DB >> 24815019

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

Marco Ritelli1, Nicola Chiarelli1, Stefano Quinzani1, Chiara Dordoni1, Marina Venturini2, Lidia Pezzani1, Piergiacomo Calzavara-Pinton2, Marina Colombi3.   

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Year:  2014        PMID： 24815019     DOI： 10.1016/j.jdermsci.2014.04.004

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  2 in total

Review 1.  Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Authors:  Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
Journal:  Int J Mol Sci       Date:  2017-03-15       Impact factor: 5.923

Review 2.  Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Authors:  Marco Ritelli; Francisco Cammarata-Scalisi; Valeria Cinquina; Marina Colombi
Journal:  Mol Genet Genomic Med       Date:  2019-05-21       Impact factor: 2.183
  2 in total

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