Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

The investigational tissue-based therapy is for the treatment of complete DiGeorge Syndrome (cDGS), which represents a tiny subset of patients with the rare condition, DiGeorge Syndrome ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

DiGeorge syndrome, a 22q11.2 deletion syndrome ... or stunted growth. These features may alert physicians to the need for genetic testing for 22q11.2 copy number variants in bicuspid aortic ...

Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...

The combined diagnostic score (cd-score), derived from the expression levels of four long ncRNAs (RP11.443C10.1, CTD-2339L15.3, LINC00567 and DiGeorge syndrome critical region gene (DGCR9)), was ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked ...

Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic ...

Abbreviations: LDDST = low dose dexamethasone suppression test; LH = luteinizing hormone; PCOS = polycystic ovarian syndrome; UFC = urinary free cortisol. Clinical features initially attributed to ...

4 Department of Radiology, Addenbrooke’s NHS Trust, Cambridge, UK 5 Department of Audiology, Addenbrooke’s NHS Trust, Cambridge, UK Correspondence to: M P Snead Vitreoretinal Service, Box 41, ...