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Results 1 - 10 of 15 for meier syndrome
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  1. Meier-Gorlin syndrome 
    Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism ... Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.Some people with Meier-Gorlin ...
    https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome - Genetics
  2. ORC1 gene 
    ... including bone. Mutations in the ORC1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc1 - Genetics
  3. ORC6 gene 
    ... the ORC6 gene have been found to cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc6 - Genetics
  4. CDC6 gene 
    ... least one mutation in the CDC6 gene causes Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/cdc6 - Genetics
  5. ORC4 gene 
    ... on heterochromatin. Mutations in the ORC4 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/orc4 - Genetics
  6. CDT1 gene 
    ... to divide. Mutations in the CDT1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, ... how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the ...
    https://medlineplus.gov/genetics/gene/cdt1 - Genetics
  7. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  8. CAV1 gene 
    ... mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. Citation on PubMed Kim CA, Delepine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  9. Progressive familial intrahepatic cholestasis 
    ... Citation on PubMed Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick GA, Meier PJ. Enterohepatic transport of bile salts and genetics ...
    https://medlineplus.gov/...ressive-familial-intrahepatic-cholestasis - Genetics
  10. PGM3-congenital disorder of glycosylation 
    ... Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, ... Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014 Dec; ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
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