Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 19 for Pearson syndrome
Did you mean person syndrome?
  1. Pearson syndrome 
    Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of ... different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  2. Mitochondrial DNA 
    ... syndrome (described above), deletion of mitochondrial DNA causes Pearson syndrome. This severe condition affects the development of blood ... lead to the specific signs and symptoms of Pearson syndrome.It is not clear why the same deletion ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  3. GLUT1 deficiency syndrome 
    ... Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  4. SLC2A1 gene 
    ... 10.1530/eje.0.1500627. Citation on PubMed Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013 Apr; ...
    https://medlineplus.gov/genetics/gene/slc2a1 - Genetics
  5. Miller-Dieker syndrome 
    ... Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  6. Chromosome 17 
    ... Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  7. YWHAE gene 
    ... Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  8. X chromosome 
    ... or Free article on PubMed Central Vallender EJ, Pearson NM, Lahn ... Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  9. Marfan syndrome 
    ... Institute of Arthritis and Musculoskeletal and Skin Diseases Pearson ... in Marfan syndrome and related disorders. Circulation. 2008 Aug 12;118( ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  10. Chromosome 1 
    ... in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May;72(5):1200-12. doi: 10.1086/375179. Epub 2003 Apr 8. Citation on PubMed or Free article on PubMed Central Ichimura K, Vogazianou AP, Liu L, Pearson DM, Backlund LM, Plant K, Baird K, Langford ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
previous · 1 · 2 · next