MULTIPLE endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly
inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) …

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental …

Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's
disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective …

HIRSCHSPRUNG'S disease is a genetic disorder of neural crest development affecting 1 in
5,000 births. It is characterized by the absence of intramural ganglion cells in the hindgut, …

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose: (1) To demonstrate the …

Background Different diagnostic and classification criteria are available for hereditary
recurrent fevers (HRF)—familial Mediterranean fever (FMF), tumour necrosis factor receptor-…

The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase
RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or …

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases
characterised by recurrent bouts of fever and serosal inflammation that are caused by …

Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early
onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation …

Neuroblastoma (NB) is a pediatric tumor that originates from neural crest-derived cells
undergoing a defective differentiation due to genomic and epigenetic impairments. Therefore, NB …