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Yang, C. Amish Lethal Microcephaly. Encyclopedia. Available online: https://encyclopedia.pub/entry/4719 (accessed on 28 September 2026).
Yang C. Amish Lethal Microcephaly. Encyclopedia. Available at: https://encyclopedia.pub/entry/4719. Accessed September 28, 2026.
Yang, Catherine. "Amish Lethal Microcephaly" Encyclopedia, https://encyclopedia.pub/entry/4719 (accessed September 28, 2026).
Yang, C. (2020, December 24). Amish Lethal Microcephaly. In Encyclopedia. https://encyclopedia.pub/entry/4719
Yang, Catherine. "Amish Lethal Microcephaly." Encyclopedia. Web. 24 December, 2020.
Amish Lethal Microcephaly
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly

Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.

 

genetic conditions

References

  1. Biesecker LG. Amish Lethal Microcephaly. 2003 Sep 4 [updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1365/
  2. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethalmicrocephaly: a new metabolic disorder with severe congenital microcephaly and2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26.
  3. Korf BR. What's new in neurogenetics? Amish microcephaly. Eur J PaediatrNeurol. 2003;7(6):393-4.
  4. 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. Knockoutof Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryoniclethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A. 2006 Oct24;103(43):15927-32.
  5. 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, KelleyRI, Schäffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9.
  6. Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A. 2010Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 768
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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