Idiopathic Congenital Central Hypoventilation Syndrome: Analysis of Genes Pertinent to Early Autonomic Nervous System Embryologic Development and Identification of Mutations in PHOX2b

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 267-278

  Weese Mayer, Debra E ^a,f   Berry Kravis, Elizabeth M ^a,b   Zhou, Lili ^a   Maher, Brion S ^c   Silvestri, Jean M ^a   Curran, Mark E ^d   Marazita, Mary L ^c,e  

^a RUSH MEDICAL COLLEGE   (United States)

^b Rush Children's Hospital and Rush University Medical Center   (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d DNA Sciences Inc   (United States)

^e UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^f RUSH UNIVERSITY   (United States)

Author keywords

ANS; BMP2; ECE1; EDN1; EN1; MASH1; PHOX2a; PHOX2b; TLX3

Indexed keywords

ALANINE DERIVATIVE; BONE MORPHOGENETIC PROTEIN 2; ENDOTHELIN CONVERTING ENZYME; ENGRAILED PROTEIN 1; GENE PRODUCT; MAMMALIAN ACHAETESCUTE HOMOLOG 1 PROTEIN; PROTEIN PHOX2A; PROTEIN PHOX2B; PROTEIN TLX3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTONOMIC NERVOUS SYSTEM; CHILD; CHROMOSOME MOSAICISM; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO DEVELOPMENT; ETHNOLOGY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPOVENTILATION; IDIOPATHIC DISEASE; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE REPEAT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DETERMINATION; PROTEIN STRUCTURE; SEX DIFFERENCE; STRUCTURE ANALYSIS;

MAMMALIA;

EID: 0344033754     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20527     Document Type: Article

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