Report of a family with craniofrontonasal syndrome

Clinical Dysmorphology

Volumn 24, Issue 2, 2015, Pages 79-83

  Özyilmaz, Berk ^a   Gezdirici, Alper ^b   Özen, Mustafa ^c   Kalenderer, Önder ^a  

^a TEPECIK EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b Infectious Disease Department   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Cellular interference; Craniofrontonasal syndrome; Craniosynostosis; EFNB1; Genotype phenotype; Hemizygous; X linked dominant

Indexed keywords

EPHRIN B1; GLYCINE; SERINE; EFNB1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CLEFT LIP; CLINICAL FEATURE; CLINODACTYLY; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; DIVERGENT STRABISMUS; DYSPLASIA; FACE ASYMMETRY; FATHER; FEMALE; FRONTAL BOSSING; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HEMIZYGOTE; HETEROZYGOTE; HUMAN; HYPERTELORISM; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PLAGIOCEPHALY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TELECANTHUS; GENETICS; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; SEXUAL DEVELOPMENT; X CHROMOSOME LINKED DISORDER;

CHILD; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; EPHRIN-B1; FEMALE; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; HYPERTELORISM; MALE; MUTATION; PEDIGREE; SEX CHARACTERISTICS;

EID: 84924931859     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000067     Document Type: Article

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