Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia
Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Hum Genet. 2007 Jun;121(5):648
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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. BMC Med Genet. 2010 Sep 22;11:137
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E,…
DetallesNew ocular findings in two sisters with Yunis-Varón syndrome and literature review
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