Literature DB >> 2517819

Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).

E Boltshauser1, H Stocker, M Mächler.   

Abstract

Neurofibromatosis type 1 (NF-1) was incidentally diagnosed in a 1-year-old girl. Her father was found to show the cutaneous signs of segmental neurofibromatosis (NF-5). This observation supports the possibility that subjects with NF-5 can transmit NF-1 to their offsprings in some cases, which has to be considered in genetic counseling.

Entities:  

Mesh:

Year:  1989        PMID: 2517819

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


  5 in total

1.  Ophthalmological manifestations in segmental neurofibromatosis type 1.

Authors:  M Ruggieri; P Pavone; A Polizzi; M Di Pietro; A Scuderi; A Gabriele; A Spalice; P Iannetti
Journal:  Br J Ophthalmol       Date:  2004-11       Impact factor: 4.638

Review 2.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

3.  Somatic mosaicism in a patient with neurofibromatosis type 1.

Authors:  S D Colman; S A Rasmussen; V T Ho; C R Abernathy; M R Wallace
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 4.  Neurofibromatosis type 1.

Authors:  Kevin P Boyd; Bruce R Korf; Amy Theos
Journal:  J Am Acad Dermatol       Date:  2009-07       Impact factor: 11.527

5.  Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

Authors:  Pamela Poblete-Gutiérrez; Tonio Wiederholt; Arne König; Frank K Jugert; Yvonne Marquardt; Albert Rübben; Hans F Merk; Rudolf Happle; Jorge Frank
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

  5 in total

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