PMID: 15224714Jul 1, 2004Paper

Familial segmental neurofibromatosis

Journal of Child Neurology
Sibel OguzkanSabiha Aysun

Abstract

Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations.

References

Jan 1, 1996·Journal of Medical Genetics·M H ShenM Upadhyaya
Oct 31, 2002·Journal of Child Neurology·David Viskochil

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Citations

Jul 20, 2007·Journal of Genetic Counseling·Heather B RadtkeGretchen Schneider
Dec 23, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kimberly Jett, Jan M Friedman
Apr 27, 2010·Indian Journal of Dermatology·Sushma Kashinath GabhaneSudhakar K Bobhate
Sep 5, 2015·Pediatric Dermatology·Maria Teresa García-RomeroIrene Lara-Corrales
Feb 19, 2008·Journal of the American Academy of Dermatology·Chao-Chun YangWenChieh Chen
Apr 17, 2007·Journal of the American Academy of Dermatology·Amanda Sergay, Nanette B Silverberg
Dec 13, 2006·Pediatric Neurology·Gabriel GonzalezAmelia Lodeiros
Dec 1, 2012·Anais Brasileiros De Dermatologia·Irena JankovicMilena Velickovic
Jul 11, 2014·Journal of Cutaneous Medicine and Surgery·Jori HardinRichard M Haber
Dec 19, 2019·Journal of Child Neurology·Grant L HomManikum Moodley
Apr 22, 2019·BMJ Case Reports·Rashmi JindalKinnari Rawat
Oct 30, 2014·Journal of the European Academy of Dermatology and Venereology : JEADV·F DragoA Parodi

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