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Results 1 - 10 of 17 for heller syndrome 2
  1. Chromosome 2 
    ... doi: 10.1002/ajmg.10537. Citation on PubMed Heller M, Provan D, Amess JA, Dixon-McIver A. Myelodysplastic syndrome associated with trisomy 2. Clin Lab Haematol. 2005 Aug;27(4):270- ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  2. What Are Common Treatments for Down Syndrome? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Down Syndrome/Treatments and Therapies ... Down Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ...
    https://www.nichd.nih.gov/.../topics/down/conditioninfo/treatments - External Health Links
  3. Multiple pterygium syndrome 
    ... syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  4. Cardiofaciocutaneous syndrome 
    ... and seizures.The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  5. Adenosine deaminase 2 deficiency 
    Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early ...
    https://medlineplus.gov/.../adenosine-deaminase-2-deficiency - Genetics
  6. LMNA-related congenital muscular dystrophy 
    ... Benedetti S, Bertini E, Bonne G, Topaloglu H. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. ... and brain involvement. Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: ... on PubMed Heller F, Dabaj I, Mah JK, Bergounioux J, Essid ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  7. CHRNG gene 
    ... cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/chrng - Genetics
  8. Bernard-Soulier syndrome 
    ... Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. Am J Hematol. 2015 Feb;90(2):149-55. doi: 10.1002/ajh.23891. Epub ...
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  9. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  10. AIRE gene 
    ... patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub ...
    https://medlineplus.gov/genetics/gene/aire - Genetics
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