Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician-Reference-Cited by-同舟云学术

Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

Published:1996-11 Issue:11 Volume:35 Page:545-561
ISSN:0009-9228
Container-title:Clinical Pediatrics
language:en
Short-container-title:Clin Pediatr (Phila)

Author:

Goldberg Yael¹,Dibbern Kurt,Klein Jana²,Riccardi Vincent M.³,Graham John M.²

Affiliation:

1. Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048; Hadassah Medical School, Jerusalem, Israel

2. Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048

3. The Neurofibromatosis Institute, 5415 Briggs Avenue, La Crescenta, CA 91214

Abstract

With an incidence of 1 in 3,000, neurofibromatosis type 1 (NFl), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NFI is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NFl in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NFl.

Publisher

SAGE Publications

Subject

Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/000992289603501101

Reference31 articles.

1. The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations

2. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

3. Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

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