Variable human phenotype associated with novel deletions of the PHOX2B gene

Pediatric Pulmonology

Volumn 47, Issue 2, 2012, Pages 153-161

  Jennings, Lawrence J ^a   Yu, Min ^a,b   Rand, Casey M ^a   Kravis, Nicole ^a   Berry Kravis, Elizabeth M ^c   Patwari, Pallavi P ^a,b   Weese Mayer, Debra E ^a,b  

^a CHILDREN'S MEMORIAL HOSPITAL   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c RUSH UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

alveolar hypoventilation; autonomic dysregulation; congenital central hypoventilation syndrome (CCHS); Hirschsprung disease (HSCR); tumor of neural crest origin

Indexed keywords

DNA FRAGMENT; GENOMIC DNA;

ARTICLE; ARTIFICIAL VENTILATION; AUTONOMIC DYSFUNCTION; BASE PAIRING; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONGENITAL DISORDER; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FAMILY STUDY; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HOMEOBOX; HUMAN; HYPERCAPNIA; HYPOVENTILATION; HYPOXEMIA; INFANT; LUNG ALVEOLUS HYPOVENTILATION; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROBLASTOMA; PAIRED LIKE HOMEOBOX GENE 2B; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; INFANT; MALE; PHENOTYPE; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 84855901721     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.21527     Document Type: Article

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