Genetic Conditions > Amish lethal microcephaly >

References

These sources were used to develop the Genetics Home Reference condition summary on Amish lethal microcephaly.

Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2284-8. Epub 2001 Feb 20. PubMed citation
Gene Review: Amish Lethal Microcephaly
Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). Cytogenet Cell Genet. 2001;93(1-2):40-2. PubMed citation
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. PubMed citation
Korf BR. What's new in neurogenetics? Amish microcephaly. Eur J Paediatr Neurol. 2003;7(6):393-4. PubMed citation
Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. Epub 2006 Oct 11. PubMed citation
OMIM: MICROCEPHALY, AMISH TYPE
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. Epub 2002 Aug 19. PubMed citation


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