Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2297-2301

  Rand, Casey M ^a   Yu, Min ^a   Jennings, Lawrence J ^a   Panesar, Kelvin ^a   Berry Kravis, Elizabeth M ^b   Zhou, Lili ^b   Weese Mayer, Debra E ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b RUSH UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Congenital central hypoventilation syndrome; Germline mosaicism; Ondine's Curse; PHOX2B

Indexed keywords

GENOMIC DNA;

AMNIOCENTESIS; APNEA; ARTICLE; ARTIFICIAL VENTILATION; BRADYCARDIA; CASE REPORT; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CYANOSIS; DNA EXTRACTION; FAMILIAL DISEASE; FEMALE; GENE; GENETIC SCREENING; GENOTYPE; GERMLINE MOSAICISM; GESTATION PERIOD; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MOSAICISM; MUTATIONAL ANALYSIS; PATERNITY TEST; PHOX2B GENE; POLYALANINE REPEAT EXPANSION MUTATION; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RECURRENT DISEASE; SELECTIVE ABORTION; SEMEN ANALYSIS; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; TRACHEOSTOMY;

BASE SEQUENCE; DNA PRIMERS; FEMALE; GERM CELLS; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; INFANT, NEWBORN; MUTATION; RECURRENCE; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 84865568214     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35499     Document Type: Article

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