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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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Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 1993
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682213/
https://ncbi.nlm.nih.gov/pubmed/8430692
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