A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication

Gene

Volumn 527, Issue 2, 2013, Pages 675-678

  Seven, Mehmet ^a   Gezdirici, Alper ^a   Ulucan, Hakan ^a   Karatas, Omer Faruk ^a,b   Yosunkaya, Elif ^a   Yuksel, Adnan ^a,c   Ozen, Mustafa ^a,c  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ERZURUM TECHNICAL UNIVERSITY   (Turkey)

^c BEZMIALEM VAKIF UNIVERSITY   (Turkey)

Author keywords

Broad hallux; Craniofrontonasal syndrome; EFNB1

Indexed keywords

EPHRIN; EPHRIN B1; EPHRIN RECEPTOR; GENOMIC DNA; ISOLEUCINE; THREONINE;

ANTERIOR FONTANEL; ARTICLE; BRACHYCEPHALY; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; DEVELOPMENTAL DISORDER; EXON; FEMALE; FRONTAL BOSSING; GENE MUTATION; HALLUX; HUMAN; HYPERTELORISM; INFANT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TELECANTHUS;

3D CT SCAN; ACTH; ADRENOCORTICOTROPIC HORMONE; BROAD HALLUX; CFNS; CRANIOFRONTONASAL SYNDROME; EFNB1; HGMD; HUMAN GENE MUTATION DATABASE; INTERPUPILLARY DISTANCE; IPD; OCD; OUTER CANTHAL DISTANCE; SIFT; SORTING INTOLERANT FROM TOLERANT; THREE-DIMENSIONAL COMPUTED TOMOGRAPHY SCAN;

CRANIOFACIAL ABNORMALITIES; EPHRIN-B1; FEMALE; FOOT DEFORMITIES; HUMANS; INFANT; MUTATION;

EID: 84881557221     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.038     Document Type: Article

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