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A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Upadhyaya, M, Roberts, S H, Maynard, J, Sorour, E, Thompson, P W, Vaughan, M, Wilkie, A O, Hughes, H EVolume:
33
Langue:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmg.33.2.148
Date:
February, 1996
Fichier:
PDF, 2.18 MB
english, 1996