Literature DB >> 29957862

Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.

A Marwaha1, J Malach1, A Shugar1, S Hedges1, M Weinstein2, P C Parkin2, E Pope3, I Lara-Corrales3, P Kannu1.   

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Year:  2018        PMID： 29957862     DOI： 10.1111/bjd.16929

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

Review 1.  Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review.

Authors:  C Ejerskov; M Raundahl; P A Gregersen; M M Handrup
Journal:  Orphanet J Rare Dis       Date:  2021-04-14       Impact factor: 4.123

2.  Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Authors:  Filomena Napolitano; Milena Dell'Aquila; Chiara Terracciano; Giuseppina Franzese; Maria Teresa Gentile; Giulio Piluso; Claudia Santoro; Davide Colavito; Anna Patanè; Paolo De Blasiis; Simone Sampaolo; Simona Paladino; Mariarosa Anna Beatrice Melone
Journal:  Genes (Basel)       Date:  2022-06-23       Impact factor: 4.141
  2 in total

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