Congenital central hypoventilation syndrome: Genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 289-293

  Parodi, S ^a   Vollono, C ^b   Baglietto, M P ^a   Balestri, M ^b   Di Duca, M ^a   Landri, P A ^c   Ceccherini, I ^a   Ottonello, G ^a   Cilio, M R ^b  

^a G GASLINI INSTITUTE   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c POS Maria della Speranza ^*  (Italy)

Author keywords

Asymptomatic carriers; Congenital central hypoventilation syndrome; Genotype; Phenotype correlation; Polysomnography; Somatic mosaicism

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOVENTILATION; MALE; MOSAICISM; NONREM SLEEP; NUCLEOTIDE SEQUENCE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; SIBLING; SLEEP DISORDERED BREATHING;

ADULT; ALANINE; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; MALE; MUTATION; PARENTS; PEPTIDES; POLYSOMNOGRAPHY; SYNDROME; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77955818305     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01383.x     Document Type: Article

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