Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

por Haghighi, Alireza, Verdin, Hannah, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Gohari, Nasrollah Saleh, De Baere, Elfride
Publicado 2012

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

por Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Klopstock, Thomas, Dworschak, Andrea, Pulido, Nathan, Saeed, Mahmood A, Saleh-Gohari, Nasrollah, Holzerova, Eliska, Chinnery, Patrick F, Taylor, Robert W, Prokisch, Holger
Publicado 2014