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Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects,...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Stern, H J, Saal, H M, Lee, J S, Fain, P R, Goldgar, D E, Rosenbaum, K N, Barker, D F
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 1992
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015894/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1348094/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.3.184
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