Condition: Congenital central hypoventilation


rs8192466 in BDNF-AS;BDNF gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 11840487 2002 Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.

rs36119840 in GDNF-AS1;GDNF gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 9497256 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse.

rs772448418 in PHOX2B gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 14608649 2003 Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

PMID 12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

PMID 14566559 2003 Molecular analysis of congenital central hypoventilation syndrome.

PMID 15334515 2004 PHOX2B gene mutation in a patient with late-onset central hypoventilation.

PMID 26063465 2015 Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

rs552057730 in RET gene and Congenital central hypoventilation PMID 14566559 2003 Molecular analysis of congenital central hypoventilation syndrome.

PMID 9497256 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse.

PMID 12086152 2002 Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.