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Results 1 - 10 of 239 for SHORT syndrome
  1. PIK3R1 gene 
    ... depression, Rieger anomaly, and teething delay (often called SHORT syndrome). This condition is characterized by signs and symptoms ... gene variants lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be ...
    https://medlineplus.gov/genetics/gene/pik3r1 - Genetics
  2. KCNH2 gene 
    ... gene can also cause a heart condition called short QT syndrome. In people with this condition, the cardiac muscle ... the KCNH2 gene have been found to cause short QT syndrome in a small number of affected families. These ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  3. KCNJ2 gene 
    ... gene can also cause a heart condition called short QT syndrome, which is a type of arrhythmia. In people ... the KCNJ2 gene have been found to cause short QT syndrome in a small number of affected families. These ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
  4. KCNQ1 gene 
    ... KCNQ1 gene can cause a heart condition called short QT syndrome. In people with this condition, the cardiac muscle ... sudden death.The KCNQ1 gene mutations associated with short QT syndrome change single amino acids in the KCNQ1 protein. ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  5. CACNA1C gene 
    ... in various tissues. MedlinePlus Genetics provides information about Short QT syndrome More About This Health Condition Variants (also known ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  6. DYNC2H1 gene 
    ... to cause two other disorders of bone growth: short-rib polydactyly syndrome type II (SRPS type II), also known as Majewski syndrome, and short-rib polydactyly syndrome type III (SRPS type III), also known as ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  7. CUL7 gene 
    ... Onodera O. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population ...
    https://medlineplus.gov/genetics/gene/cul7 - Genetics
  8. WDR35 gene 
    ... DJ. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  9. NOTCH2 gene 
    ... to fracture; distinctive facial features; spinal abnormalities; and short stature. Additionally, Hajdu-Cheney syndrome can affect the joints, teeth, heart, kidneys, and ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  10. OBSL1 gene 
    ... Black GC. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf). 2012 Sep;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. Citation on PubMed ... of 3-M syndrome: unravelling a potential new regulatory growth pathway. Horm ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
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