Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was loca...

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Autori principali: Breuning, Martijn H., Dauwerse, Hans G., Fugazza, Gluseppina, Saris, Jasper J., Spruit, Lia, Wijnen, Herman, Tommerup, Niels, van der Hagen, C. B., Imaizumi, Kiyoshi, Kuroki, Yoshikazu, van den Boogaard, Marie-Jose, de Pater, Joke M., Mariman, Edwin C. M., Hamel, Ben C. J., Himmelbauer, Heinz, Frischauf, Anne-Marie, Stallings, Raymond L., Beverstock, Geoffrey C., van Ommen, Gert-Jan B., Hennekam, Raoul C. M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682202/
https://ncbi.nlm.nih.gov/pubmed/8430691
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