Article
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Nature genetics - 1 Sept 2002
Rosenberg Marjorie J, Agarwala Richa, Bouffard Gerard, Davis Joie, Fiermonte Giuseppe, Hilliard Mark S, Koch Thorsten, Kalikin Linda M, Makalowska Izabela, Morton D Holmes, Petty Elizabeth M, Weber James L, Palmieri Ferdinando, Kelley Richard I, Schäffer Alejandro A, Biesecker Leslie G
Abstract excerpt
The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania. Here we show, by using a genealogy database and automated pedigree software,...
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