CLINICAL GENETICS, vol.50, no.4, pp.248-250, 1996 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Karadeniz Technical University Affiliated:
We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B-12 malabsorption (Imerslund-Grasbeck syndrome) and del (21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.