Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages e1-e4

  Thauvin Robinet, C ^a,b   Duplomb Jego, L ^a,b   Limoge, F ^a,b   Picot, D ^a,b   Masurel, A ^a   Terriat, B ^c   Champilou, C ^a,b   Minot, D ^a   St Onge, J ^a,b   Kuentz, P ^a,b   Duffourd, Y ^a,b   Thevenon, J ^a,b   Riviere J B ^a,b   Faivre, L ^a,b  

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c HÔPITAL DU BOCAGE   (France)

Author keywords

FGF1; FIBP; Macrocephaly; Overgrowth; Retinal coloboma

Indexed keywords

BINDING PROTEIN; COMPLEMENTARY DNA; FIBROBLAST GROWTH FACTOR INTRACELLULAR BINDING PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; FIBP PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COLOBOMA; DNA DEGRADATION; EXOME; FIBROBLAST; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIATION; GROWTH DISORDER; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; LANGUAGE DISABILITY; LEARNING DISORDER; MACROCEPHALY; MALE; MALROTATION SYNDROME; MITRAL VALVE PROLAPSE; NEUTROPENIA; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; RETINAL COLOBOMA; VARICOSIS; YOUNG ADULT; ADOLESCENT; ALEXANDER DISEASE; CONSANGUINITY; EYE MALFORMATION; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; PROCEDURES; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CARRIER PROTEINS; CONSANGUINITY; EXOME; EYE ABNORMALITIES; FEMALE; GENETIC VARIATION; GROWTH DISORDERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; LEARNING DISORDERS; MALE; MEGALENCEPHALY; MEMBRANE PROTEINS; PEDIGREE; SYNDROME;

EID: 84955131827     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12704     Document Type: Article

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