Familial craniosynostosis associated with a microdeletion involving the NFIA gene

Clinical Dysmorphology

Volumn 24, Issue 3, 2015, Pages 109-112

  Nyboe, Daniel ^a   Kreiborg, Sven ^a,b   Kirchhoff, Maria ^a   Hove, Hanne B ^a  

^a University of Copenhagen   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME DELETION; CORPUS CALLOSUM; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; FACIES; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENETIC VARIABILITY; GIRL; HUMAN; HYDRONEPHROSIS; LOW SET EAR; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MICRODELETION; MIXED INFECTION; MOTOR PERFORMANCE; NFIA GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; URETEROCELE; URINARY TRACT INFECTION; GENETICS; PEDIGREE;

NFIA PROTEIN, HUMAN; NUCLEAR FACTOR I;

ADOLESCENT; CRANIOSYNOSTOSES; FEMALE; HUMANS; NFI TRANSCRIPTION FACTORS; PEDIGREE; SEQUENCE DELETION;

EID: 84931332906     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000079     Document Type: Article

References (9)

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