Literature DB >> 3152486

Variable expressivity of neurofibromatosis-1 in identical twins.

M Bauer1, H Lubs, M L Lubs.   

Abstract

Monozygotic twins with Neurofibromatosis-1 (NF-1) who have both concordant and discrepant clinical manifestations are reported. At 7 years of age, both twins were found to have learning disabilities, poor fine and gross motor skills, but different distributions of café-au-lait spots, axillary freckling, and iris Lisch nodules; only twin A was found to have multiple neurofibromas involving the mesentery. Manifestations of mesenteric neurofibromas have not been reported previously to occur this early in childhood; they are an unusual presenting feature of NF-1.

Entities:  

Mesh:

Year:  1988        PMID: 3152486

Source DB:  PubMed          Journal:  Neurofibromatosis        ISSN: 1010-5662


  4 in total

Review 1.  Understanding intellectual disability through RASopathies.

Authors:  Alvaro San Martín; Mario Rafael Pagani
Journal:  J Physiol Paris       Date:  2014-05-21

2.  Monozygotic twins discordant for neurofibromatosis 1.

Authors:  Lee Kaplan; Rosemary Foster; Yiping Shen; Dilys M Parry; Mary L McMaster; Melanie Collins O'Leary; James F Gusella
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

Review 3.  Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.

Authors:  Jaishri O Blakeley; Scott R Plotkin
Journal:  Neuro Oncol       Date:  2016-02-06       Impact factor: 12.300

4.  Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?

Authors:  Maëlle Biotteau; Sébastien Déjean; Sandrine Lelong; Stéphanie Iannuzzi; Nathalie Faure-Marie; Pierre Castelnau; François Rivier; Valérie Lauwers-Cancès; Eloïse Baudou; Yves Chaix
Journal:  Front Neurol       Date:  2020-05-05       Impact factor: 4.003

  4 in total

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