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Results 1 - 10 of 13 for Limb duplication
  1. ... of the disorder in their family. ACLS Hallux duplication, postaxial polydactyly, and absence of corpus callosum Schinzel ...
  2. ... features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been ... the condition. Diaphragmatic hernia, abnormal face, and distal limb anomalies Genetic Testing Registry: Fryns syndrome Fryns syndrome ...
  3. ... number of copies of chromosome 7. 7q11.23 duplication syndrome, a condition that can cause a variety ... contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers are studying genes whose functions suggest ...
  4. ... PMP22 gene in each cell caused by a duplication of genetic material on chromosome 17 is the ... behavioral problems.YUHAL syndrome results from abnormal copying (duplication) of a small piece of the short (p) ...
  5. ... kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities and neurogenic bladder can lead ...
  6. ... system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; ...
  7. ... M. Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13. ... or Free article on PubMed Central Goodman FR. Limb malformations and the human HOX genes. Am J ...
  8. ... also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can ...
  9. ... that move food along during digestion.Deletions or duplications of genetic material can affect all or part ...
  10. ... difficulty walking or cannot walk.An extra copy (duplication) of the PLP1 gene accounts for 50 to ... problems, particularly muscle stiffness (spasticity) in the lower limbs that worsens over time. Generally, PLP1 gene mutations ...
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