Expanding the phenotype of craniofrontonasal syndrome: Two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

European Journal of Human Genetics

Volumn 14, Issue 7, 2006, Pages 884-887

  Vasudevan, Pradeep C ^a   Twigg, Stephen R F ^b   Mulliken, John B ^c   Cook, Jackie A ^a   Quarrell, Oliver W J ^a   Wilkie, Andrew O M ^b  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Congenital diaphragmatic hernia; Craniofrontonasal syndrome; EFNB1

Indexed keywords

EPHRIN B1; GLUTAMINE; GLYCINE; LEUCINE; POLITEF; PROTEIN EFNB1; THREONINE; TRYPTOPHAN; UNCLASSIFIED DRUG; VALINE;

ARTICLE; BRACHYDACTYLY; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRANIOFRONTONASAL SYNDROME; DYSPHAGIA; EXON; FAMILY HISTORY; FAMILY STUDY; FRAMESHIFT MUTATION; FUNNEL CHEST; GASTROSTOMY; GENE MUTATION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPERTELORISM; INFANT; KARYOTYPE; MALE; MOTHER; MUTATIONAL ANALYSIS; PES EQUINOVARUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SACROCOCCYX TERATOMA; SIGNAL TRANSDUCTION; STOMACH FUNDOPLICATION; TELECANTHUS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EPHRIN-B1; FEMALE; GENETIC DISEASES, X-LINKED; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME;

EID: 33745286844     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201633     Document Type: Article

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