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Xu, R. Miller Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4198 (accessed on 27 September 2026).
Xu R. Miller Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4198. Accessed September 27, 2026.
Xu, Rita. "Miller Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4198 (accessed September 27, 2026).
Xu, R. (2020, December 23). Miller Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4198
Xu, Rita. "Miller Syndrome." Encyclopedia. Web. 23 December, 2020.
Miller Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/miller-syndrome

Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.

genetic conditions

References

  1. Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet.2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.
  2. Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr.2007 Jun;137(6 Suppl 2):1656S-1661S. doi: 10.1093/jn/137.6.1656S. Review.
  3. Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Limb anomalies: Developmental andevolutionary aspects. Am J Med Genet. 2002 Dec 30;115(4):231-44. Review.
  4. Neumann L, Pelz J, Kunze J. A new observation of two cases of acrofacialdysostosis type Genée-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs. Am J Med Genet. 1996 Sep 6;64(4):556-62.
  5. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, ShannonPT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifiesthe cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. doi:10.1038/ng.499.
  6. Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP,Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Analysisof genetic inheritance in a family quartet by whole-genome sequencing. Science.2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802.
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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 : Rita Xu
View Times: 854
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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