Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature Genetics, Volume 32, Issue 1, 2002, Pages 175-179.

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Abstract:

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. Her...More

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