Concepedia

Neurofibromatosis presenting with a cherubism phenotype

Carine I. van Capelle, P.H.G. Hogeman, C. J. M. van der Sijs‐Bos, Ben G. F. Heggelman, Bernadine Idowu, Pieter J. Slootweg, A. R. M. Wittkampf, Adrienne M. Flanagan

European Journal of Pediatrics · 2006 · 37 citations · 27 references

DOI

Concepts

References

27

Neurofibromatosis

Archives of Neurology · 1988 · 1.5K citations

, , +11

Neurofibromatosis. Conference statement, National Institute of Health development conference

Da Stumpf · JAMA Neurology · 1988 · 1.2K citations

, , +5

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PubMed · 1988 · 753 citations

, , +9

Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children

Kimberly DeBella, Jacek Szudek, Jan M. Friedman · PEDIATRICS · 2000 · 577 citations

, , +11

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Yasuyoshi Ueki, Valdenize Tiziani, Carla Santanna et al. · Nature Genetics · 2001 · 385 citations

, , +4