About The Medical Condition Contiguous Gene Syndrome, Williams
Find the definition of the medical term Contiguous Gene Syndrome, Williams. Contiguous Gene Syndrome, Williams defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Contiguous Gene Syndrome, Williams
| Contiguous Gene Syndrome, Williams Medical Condition |
|---|
What's The Definition Of The Medical Condition Contiguous Gene Syndrome, Williams?
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- CD140A Antigens ‐ A PDGF receptor that binds specifically to both PDGF-A chains…
- Broadsides [Publication Type] ‐ Separately published pieces of paper or other material, usually…
- Strongyloses, Equine ‐ Infection of horses with parasitic nematodes of the superfamily…
- Mature Teratomas ‐ A true neoplasm composed of a number of different types of tissue,…
- Paraganglioma ‐ A neural crest tumor usually derived from the chromoreceptor…
- Affinity Chromatographies ‐ A chromatographic technique that utilizes the ability of biological…
- Gyno-Pevaril ‐ A broad spectrum antimycotic with some action against Gram positive…
- System, ABO Blood-Group ‐ The major human blood type system which depends on the presence…
- Series, Fourier ‐ Analysis based on the mathematical function first formulated…
- Elements, Anti-Sense ‐ Nucleic acids which hybridize to complementary sequences in other…