The present review summarizes current knowledge on three rare genetic disorders of
respiratory control, congenital central hypoventilation syndrome (CCHS), Rett syndrome …

Expansion of polyalanine tracts cause at least 9 inherited human diseases. Eight of these
nine diseases are due to expansions in transcription factors and give rise to congenital …

Background Clinical testing for PHOX2B mutations is widely used for patients with any
symptoms suggestive of hypoventilation (with/without anatomic/physiologic autonomic …

Heterozygous in frame duplications of the PHOX2B gene, leading to polyalanine (polyAla)
expansions ranging from+ 5 to+ 13 residues of a 20-alanine stretch, have been identified in …

Expansions of a polyalanine (polyA) stretch in the coding region of the PHOX2B gene cause
congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by …

Down syndrome (DS) is recognized by characteristic facial features, intellectual disability,
and an increased risk for cardiac malformations and duodenal atresia. Recently …

ABSTRACT Central Hypoventilation Syndrome is a rare disorder of the central nervous
system, autosomal dominant, characterized by an abnormal autonomic ventilatory response …

Intellectual disability (ID) affects~ 1-3% of the population, profoundly impacting the lives of
affected individuals and their families. An approximate 30% excess of males with ID …