Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS

by Kinsler, Veronica A., Thomas, Anna C., Ishida, Miho, Bulstrode, Neil W., Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J., Moore, Gudrun E.
Published 2013

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

by Woods-Townsend, Kathryn, Cundall, Maria, Turton, James, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W.K, Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., Dattani, Mehul T.
Published 2005