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

Simple Summary Changes in the RET gene (like mutations or fusions) are often found in
lung and thyroid cancers but are also found in other cancer types. New drugs called …

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

Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal‐dominant disorder
caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are …

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a
disorder characterized by an idiopathic failure of the automatic control of breathing. CCHS is …

The modern story of CCHS began in 1970 with the first description by Mellins et al., came
most visibly to the public eye with the ATS Statement in 1999, and continues with …

We have previously identified polymorphisms in the serotonin transporter gene promoter
region and in intron 2 that were more common among sudden infant death syndrome (SIDS) …

Congenital Central Hypoventilation Syndrome (CCHS) is characterized by alveolar
hypoventilation, disordered respiratory control, and anatomic and physiologic autonomic …

Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by
tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during …

The initial response to a publication on a pediatric “orphan disease” is not necessarily
enthusiasm, especially if the reader is an adult intensivist or pulmonologist. Although …