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 ...

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 ...

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

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 ...

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 ...

Background and objective Gastric cancer (GC) remains a prevalent and preventable disease, yet accurate early diagnostic methods are lacking. Exosome non-coding RNAs (ncRNAs), a type of liquid biopsy, ...

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 ...

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

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

Midline clefting (bifid uvula, submucous cleft, high arch palate, cleft repair, Pierre Robin sequence). The clinical features of patients with type 2 Stickler syndrome with confirmed mutations in the ...