Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Stuttering

Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.

Total: 1

(per page)

PMID (PMCID)
20831970	MALE	Middle Aged
	Word-final prolongations in an adult male with neurofibromatosis type 1.
	Cosyns M, Mortier G, Corthals P, Janssens S, Van Borsel J. J Fluency Disord. 2010;35(3):235-45.
	The reader will be able to: (1) describe the characteristics of word-final prolongations as displayed by an adult male with neurofibromatosis type 1 and (2) discuss the possible pathogenesis of these word-final prolongations and their relation to stuttering.