136 followers
EPG5; Confirmed DD Gene; 13436; IMMUNODEF, CLEFT LIP, CATARACT, HYPOPIGN, ABSENT CALLOSUM; Biallelic; Loss of function; http://t.co/OWH5vJcU
EPG5; Confirmed DD Gene; 13436; IMMUNODEF, CLEFT LIP, CATARACT, HYPOPIGN, ABSENT CALLOSUM; Biallelic; Loss of function; http://t.co/OWH5vJcU
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy http://t.co/bZSfRJXi
#ds Vici syndrome—callosal agenesis,cataracts,cardiomyopathy, immunodeficiency,hypopigmentation:Reces mutations in EPG5 http://t.co/eqEj13bx
RT @genomique: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy: Nature Genetic... http://t.co/Jo1w2ulW