Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of t...

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Autores principales: Hennekam, R C, Tilanus, M, Hamel, B C, Voshart-van Heeren, H, Mariman, E C, van Beersum, S E, van den Boogaard, M J, Breuning, M H
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682213/
https://ncbi.nlm.nih.gov/pubmed/8430692
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