Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of
endocrine and non-endocrine organs associated with other clinical manifestations. This …

Stimulation of the cAMP pathway by adrenocorticotropin (ACTH) is essential for adrenal
cortex maintenance, glucocorticoid and adrenal androgens synthesis, and secretion …

PRKAR1A encodes the regulatory subunit type 1‐alpha (RIα) of the cyclic adenosine
monophosphate (cAMP)‐dependent protein kinase (PKA). Inactivating PRKAR1A mutations …

Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome
remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However …

Duplications in the~ 2 Mb desert region upstream of SOX9 at 17q24. 3 may result in familial
46, XX disorders of sex development (DSD) without any effects on the XY background. A …

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around
2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a …

Background Recent studies have revealed relative frequency and characteristic phenotype
of two major causative factors for Silver-Russell syndrome (SRS), ie epimutation of the H19 …

The availability of microarray technology has led to the recent recognition of copy number
abnormalities of distal chromosome 22q11. 2 that are distinct from the better‐characterized …

Congenital generalized hypertrichosis terminalis (CGHT) is a rare condition characterized
by universal excessive growth of pigmented terminal hairs and often accompanied with …

Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine
overactivity,'Carney complex (CNC) is known as an autosomal dominant multiple neoplasia …