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Results 1 - 10 of 11 for Pearson syndrome
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  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. 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
  3. 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
  4. 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
  5. Thanatophoric dysplasia 
    ... family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Citation on PubMed Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. The ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  6. 17q12 deletion syndrome 
    ... Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, ... and duplication syndrome in Denmark-A clinical cohort of 38 patients ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  7. 17q12 duplication 
    ... Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, ... and duplication syndrome in Denmark-A clinical cohort of 38 patients ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  8. Asphyxiating thoracic dystrophy 
    ... Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, ... with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  9. Iron-refractory iron deficiency anemia 
    ... Testing Registry: Iron-refractory iron deficiency anemia ... Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse ...
    https://medlineplus.gov/.../iron-refractory-iron-deficiency-anemia - Genetics
  10. PPP2R5D-related intellectual disability 
    ... for Rare Disorders (NORD) ... Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
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