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Autor:
Mh, Breuning, Hg, Dauwerse, Fugazza G, Jj, Saris, Spruit L, Herman Wijnen, Tommerup N, Cb, Hagen, Imaizumi K, Kuroki Y, Mj, Den Boogaard, Jm, Pater, Ec, Mariman, Bc, Hamel, Himmelbauer H, Am, Frischauf, Stallings R, Gc, Beverstock, Gj, Ommen, Rc, Hennekam
Publikováno v:
Europe PubMed Central
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5bc7bf7698e09ddad3635d0deb6de0c8
http://europepmc.org/abstract/med/8430691
http://europepmc.org/abstract/med/8430691
