Publication

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L, Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene American journal of human genetics86:72-6 2009
PubMed ID: 20004881

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
AG05140Male10 YR818probandROTHMUND-THOMSON SYNDROME; RTS
AG18469Male20 YR2252probandROTHMUND-THOMSON SYNDROME; RTS