Article
Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families.
Acta paediatrica (Oslo, Norway : 1992) - 1 Apr 1997
Ismail E A, Al Saleh Q, Sabry M A, Al Ghanim M, Zaki M
Abstract excerpt
We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families. Two of the affected sibs in each family had raised Hb A2 (>4%) while a third in Family 1 had a raised level of Hb F before...
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