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Literature DB >> 21031083

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

L A Praxedes¹, F M Pereira, J F Mazzeu, S S Costa, D R Bertola, C A Kim, A M Vianna-Morgante, P A Otto.

Abstract

We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

Entities: Disease Gene Species

Year: 2010 PMID： 21031083 PMCID： PMC2957849 DOI： 10.1159/000319976

Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769

12 in total

1. Proteus syndrome and somatic mosaicism of the chromosome 16.

Authors: M T Cardoso; T Bunte de Carvalho; L A Casulari; I Ferrari
Journal: Panminerva Med Date: 2003-12 Impact factor: 5.197

Review 2. The challenges of Proteus syndrome: diagnosis and management.

Authors: Leslie Biesecker
Journal: Eur J Hum Genet Date: 2006-08-02 Impact factor: 4.246

3. Misdiagnosis of neurofibromatosis type 1 as Proteus syndrome.

Authors: L G Biesecker; M M Cohen
Journal: Panminerva Med Date: 2005-09 Impact factor: 5.197

4. Further diagnostic thoughts about the Elephant Man.

Authors: M M Cohen
Journal: Am J Med Genet Date: 1988-04

5. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Authors: M O Dorschner; V P Sybert; M Weaver; B A Pletcher; K Stephens
Journal: Hum Mol Genet Date: 2000-01-01 Impact factor: 6.150

6. Elevated risk for MPNST in NF1 microdeletion patients.

Authors: T De Raedt; H Brems; P Wolkenstein; D Vidaud; S Pilotti; F Perrone; V Mautner; S Frahm; R Sciot; E Legius
Journal: Am J Hum Genet Date: 2003-03-26 Impact factor: 11.025

Review 7. PTEN hamartoma tumor syndromes.

Authors: Gideon M Blumenthal; Phillip A Dennis
Journal: Eur J Hum Genet Date: 2008-09-10 Impact factor: 4.246

8. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Authors: M Upadhyaya; M Ruggieri; J Maynard; M Osborn; C Hartog; S Mudd; M Penttinen; I Cordeiro; M Ponder; B A Ponder; M Krawczak; D N Cooper
Journal: Hum Genet Date: 1998-05 Impact factor: 4.132

Review 9. The Neurofibromatoses. Part 1: NF1.

Authors: Christine Lu-Emerson; Scott R Plotkin
Journal: Rev Neurol Dis Date: 2009

3. Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.

Authors: Alessandro Stella; Patrizia Lastella; Luigi Viggiano; Rosanna Bagnulo; Nicoletta Resta
Journal: Hum Mutat Date: 2022-06-28 Impact factor: 4.700

3 in total