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Yang, C. Autosomal Recessive Primary Microcephaly. Encyclopedia. Available online: https://encyclopedia.pub/entry/4905 (accessed on 26 September 2026).
Yang C. Autosomal Recessive Primary Microcephaly. Encyclopedia. Available at: https://encyclopedia.pub/entry/4905. Accessed September 26, 2026.
Yang, Catherine. "Autosomal Recessive Primary Microcephaly" Encyclopedia, https://encyclopedia.pub/entry/4905 (accessed September 26, 2026).
Yang, C. (2020, December 24). Autosomal Recessive Primary Microcephaly. In Encyclopedia. https://encyclopedia.pub/entry/4905
Yang, Catherine. "Autosomal Recessive Primary Microcephaly." Encyclopedia. Web. 24 December, 2020.
Autosomal Recessive Primary Microcephaly
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly

Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."

genetic conditions

References

  1. Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell usabout brain growth. Trends Mol Med. 2006 Aug;12(8):358-66.Review.
  2. Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B,Verloes A, Mani S, Gressens P. Many roads lead to primary autosomal recessivemicrocephaly. Prog Neurobiol. 2010 Mar;90(3):363-83. doi:10.1016/j.pneurobio.2009.11.002.
  3. Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, deVillemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C,Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Expanding the clinical and neuroradiologicphenotype of primary microcephaly due to ASPM mutations. Neurology. 2009 Sep22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.
  4. Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet. 2002Oct;39(10):718-21.
  5. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? TrendsGenet. 2009 Nov;25(11):501-10. doi: 10.1016/j.tig.2009.09.011.Review.
  6. Verloes A, Drunat S, Passemard S. ASPM Primary Microcephaly. 2020 Apr 2. 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/NBK555474/
  7. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005May;76(5):717-28.
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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
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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