Thyroid hormones are crucial for organismal development and homeostasis. In humans,
untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism …

Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

MicroRNAs (miRNAs) are genomically encoded small RNAs used by organisms to regulate
the expression of proteins generated from messenger RNA transcripts. The in vivo …

Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

Abstract 22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with
multisystem expression. Phenotypic features vary with age, ascertainment, and assessment …

The myriad developmental roles served by the T-box family of transcription factor genes defy
easy categorization. Present in all metazoans, the T-box genes are involved in early …

Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

MicroRNAs (miRNAs) are small, noncoding RNAs that regulate gene expression
posttranscriptionally. We investigated the hypothesis that bone morphogenetic protein (Bmp) …

The chromosome 22q11. 2 region has long been implicated in genomic diseases. The low-
copy repeats spanning the region predispose to homologous recombination events, and …

Its high population prevalence, estimated to be as common as 1: 2000 has sparked a large
amount of research, as has the model the syndrome serves for identifying the causes of …