Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 426-429

  van Bever, Yolande ^a   Gischler, Saskia J ^a   Hoeve, Hans L J ^a   Smit, Liesbeth S ^a   Nauta, Jeroen ^a   Dooijes, Dennis ^a,b  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Dysphagia and esophageal motility dysfunction; Hearing loss; Preaxial polydactyly; SALL1; Townes Brocks syndrome

Indexed keywords

ARGININE;

APNEA; ARTICLE; CASE REPORT; CHILD; DISEASE SEVERITY; DYSPHAGIA; FATTY ACID DESATURATION; FEMALE; FOOT; GENE; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SALL1 GENE; SWALLOWING; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; APNEA; DEGLUTITION DISORDERS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; SYNDROME; TRANSCRIPTION FACTORS;

EID: 70350617950     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.09.001     Document Type: Article

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