DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome

American Journal of Medical Genetics, Part A

Volumn 173, Issue 5, 2017, Pages 1369-1373

  Dikow, Nicola ^a   Granzow, Martin ^a   Graul Neumann, Luitgard M ^b   Karch, Stephanie ^c   Hinderhofer, Katrin ^a   Paramasivam, Nagarajan ^d,e   Behl, Laura Jane ^e   Kaufmann, Lilian ^a   Fischer, Christine ^a   Evers, Christina ^a   Schlesner, Matthias ^e   Eils, Roland ^a,e   Borck, Guntram ^f   Zweier, Christiane ^g   Bartram, Claus R ^a   Carey, John C ^h   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^f UNIVERSITY OF ULM   (Germany)

^g UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^h UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

DDX3X; exome sequencing; intellectual disability; Toriello Carey syndrome

Indexed keywords

ANUS ATRESIA; ARTICLE; AUDIOMETRY; BODY DYSMORPHIC DISORDER; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL HEART MALFORMATION; CORONARY ARTERY FISTULA; CORPUS CALLOSUM AGENESIS; DDX3X GENE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GASTROSTOMY; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GERMAN (CITIZEN); HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOVENTILATION; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; KARYOTYPING; LAGOPHTHALMOS; LARYNGOMALACIA; LEFT CORONARY ARTERY; LOW BIRTH WEIGHT; MICROCEPHALY; MUSCLE HYPOTONIA; MYELIN DEFICIENCY; NECROTIZING ENTEROCOLITIS; NEUROIMAGING; OVERLAPPING GENE; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; RECURRENT DISEASE; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SPEECH DISORDER; TORIELLO CAREY SYNDROME; TRACHEOSTOMY; VERTEBRA MALFORMATION; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; XEROPHTHALMIA; AGENESIS OF CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; EXOME; GENETICS; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MUTATION; PATHOPHYSIOLOGY; PIERRE ROBIN SYNDROME; UROGENITAL ABNORMALITIES; X CHROMOSOMAL INHERITANCE;

DDX3X PROTEIN, HUMAN; DEAD BOX PROTEIN;

AGENESIS OF CORPUS CALLOSUM; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEAD-BOX RNA HELICASES; EXOME; FEMALE; GENES, X-LINKED; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LIMB DEFORMITIES, CONGENITAL; MUTATION; PHENOTYPE; PIERRE ROBIN SYNDROME; UROGENITAL ABNORMALITIES;

EID: 85016601701     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38164     Document Type: Article

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