Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report.

Stewart, H

Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report. [electronic resource] - American journal of medical genetics. Part A Jun 2008 - 1444-52 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.32305 doi


Base Sequence
Chromosomes, Human, Pair 17--genetics
Female
Genes, Neurofibromatosis 1
Genes, p53
Genetic Markers
Germ-Line Mutation
Humans
Infant, Newborn
Loss of Heterozygosity
Neurofibromatosis 1--etiology
Sequence Deletion