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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 1993
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682202/
https://ncbi.nlm.nih.gov/pubmed/8430691
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki