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Results 1 - 10 of 16 for ".2-syndrome"
  1. 22q11.2 deletion syndrome 
    ... syndrome Conotruncal anomaly face syndrome (CTAF) Deletion 22q11.2 syndrome DiGeorge syndrome Sedlackova syndrome Shprintzen syndrome VCFS Velo- ... Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  2. Stüve-Wiedemann syndrome 
    ... condition. Neonatal Schwartz-Jampel syndrome Schwartz-Jampel type 2 syndrome SJS2 Stuve-Wiedemann dysplasia Stuve-Wiedemann syndrome Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome STWS SWS Genetic Testing Registry: Stuve-Wiedemann syndrome ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  3. Calcitonin Test: MedlinePlus Medical Test 
    ... Dictionary of Cancer Terms: multiple endocrine neoplasia type 2 syndrome; [cited 2022 Nov 23]; [about 3 screens]. Available ... dictionaries/cancer-terms/def/multiple-endocrine-neoplasia-type-2-syndrome National Cancer Institute [Internet]. Bethesda (MD): U.S. Department ...
    https://medlineplus.gov/lab-tests/calcitonin-test - Medical Tests
  4. Polymicrogyria 
    ... Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  5. Potocki-Lupski syndrome 
    ... syndrome Dup(17)(p11.2p11.2) Duplication 17p11.2 syndrome PLS PTLS Genetic Testing Registry: Potocki-Lupski syndrome ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  6. Schwartz-Jampel syndrome 
    ... LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  7. LIFR gene 
    ... LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  8. PRODH gene 
    ... GH. Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8): ...
    https://medlineplus.gov/genetics/gene/prodh - Genetics
  9. Craniofacial microsomia 
    ... of the first and second branchial arches, part 2: syndromes. AJNR Am J Neuroradiol. 2011 Feb;32(2): ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  10. Chromosome 2 
    ... detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 1; ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
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