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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
The following is a list of notable month-long observances, recurrent months that are used by various governments, groups and organizations to raise awareness of an issue, commemorate a group or event, or celebrate something.
54487 94223 Ensembl ENSG00000128191 ENSMUSG00000022718 UniProt Q8WYQ5 Q9EQM6 RefSeq (mRNA) NM_001190326 NM_022720 NM_033324 RefSeq (protein) NP_001177255 NP_073557 NP_201581 Location (UCSC) Chr 22: 20.08 – 20.11 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse The microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) is a protein that in humans is encoded by ...
Angelo Mario DiGeorge [1] (April 15, 1921 – October 11, 2009) was an American physician and pediatric endocrinologist from Philadelphia who pioneered the research on the autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.
This is a partial list of awareness ribbons. The meaning behind an awareness ribbon depends on its colors and pattern. Since many advocacy groups have adopted ribbons as symbols of support or awareness, ribbons, particularly those of a single color, some colors may refer to more than one cause. Some causes may be represented by more than one ...
Women’s History Month’s colors and their meaning Green. Ah, visions of verdant mountains and fertile valleys. “The color green symbolizes hope, new beginnings and growth,” York says.
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The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.