Search results
Results From The WOW.Com Content Network
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 ]
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
27886 Ensembl n/a ENSMUSG00000003527 UniProt Q96DF8 O70279 RefSeq (mRNA) NM_022719 NM_001081633 NM_022408 RefSeq (protein) NP_073210 NP_001075102 NP_071853 Location (UCSC) n/a Chr 16: 17.72 – 17.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene. This gene is located within the minimal DGS critical region ...
This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 deletion syndrome, velocardiofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.
Caused by glycoprotein abnormalities: Bernard–Soulier syndrome, velocardiofacial syndrome; Caused by calpain defect: Montreal platelet syndrome; Caused by alpha granules defect: gray platelet syndrome; Characterized by abnormal neutrophil inclusions: May–Hegglin anomaly, Sebastian syndrome
“Many people trying to lose weight shy away from nuts in general due to their high calorie content, but those calories are also full of nutrients,” says Julie Stevens, M.P.H., RDN, CPT.The ...
This page was last edited on 22 June 2018, at 14:43 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
Nothing tastes better than a hot, juicy steak off the grill or from a cast-iron pan – but what happens when you make too much? Of course, it makes sense to keep the leftover steak, but reheating ...