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Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11)...

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Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Sharland, M, Taylor, R, Patton, M A, Jeffery, S
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1992
Sujets:
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015895/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1348095/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.3.188
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