A case of Toriello-Carey syndrome with severe congenital tracheal stenosis

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2291-2293

  Yokoo, Noritaka ^a   Marumo, Chieko ^a   Nishida, Yoshinobu ^a   Iio, Jun ^a   Maeda, Shinji ^a   Nonaka, Michiko ^a   Maihara, Toshiro ^a   Chujoh, Satoru ^a   Katayama, Tetsuo ^a   Sakazaki, Hisanori ^b   Matsumoto, Naomichi ^c   Okamoto, Nobuhiko ^d  

^a Department of Urology   (Japan)

^b HYOGO PREFECTURAL AMAGASAKI GENERAL MEDICAL CENTER   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Congenital tracheal stenosis; Corpus callosum agenesis; Pierre Robin sequence; Single nucleotide polymorphism array; Toriello Carey syndrome

Indexed keywords

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; GENE LOCATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; JAPANESE; KARYOTYPE 46,XY; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RESPIRATORY CARE; SINGLE NUCLEOTIDE POLYMORPHISM; THREE DIMENSIONAL IMAGING; TORIELLO CAREY SYNDROME; TRACHEA STENOSIS; TRACHEOSTOMY;

CONGENITAL TRACHEAL STENOSIS; CORPUS CALLOSUM AGENESIS; PIERRE ROBIN SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM ARRAY; TORIELLO-CAREY SYNDROME;

AGENESIS OF CORPUS CALLOSUM; BRAIN; CONSTRICTION, PATHOLOGIC; CRANIOFACIAL ABNORMALITIES; FACIES; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PIERRE ROBIN SYNDROME; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; TRACHEA; UROGENITAL ABNORMALITIES;

EID: 84881669684     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35861     Document Type: Article

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