A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1686-1689

  Hazan, Filiz ^a   Ostergaard, Pia ^b   Ozturk, Taylan ^a   Kantekin, Esin ^a   Atlihan, Fusun ^a   Jeffery, Steve ^b   Ozkinay, Ferda ^c  

^a DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c EGE UNIVERSITY   (Turkey)

Author keywords

KIF11; Microcephaly lymphedema chorioretinal dysplasia syndrome; Midline cleft tongue; Novel mutation

Indexed keywords

ARTICLE; CASE REPORT; CHORIORETINAL DYSPLASIA; CHORIORETINOPATHY; CLINICAL FEATURE; CONGENITAL DISORDER; ECHOCARDIOGRAPHY; EXON; FOOT EDEMA; GENE; GENE MUTATION; GESTATIONAL AGE; HEART HYPERTROPHY; HETEROZYGOSITY; HUMAN; HYDRAMNIOS; INFANT; KIF11 GENE; LYMPHEDEMA; MALE; MICROCEPHALY; MLCRD SYNDROME; MUTATIONAL ANALYSIS; MYOPIA; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PATENT FORAMEN OVALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CODON, NONSENSE; CONSANGUINITY; EXONS; FACIES; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KINESIN; LYMPHEDEMA; MALE; MICROCEPHALY; MUTATION; PHENOTYPE; RETINAL DYSPLASIA; TURKEY;

EID: 84862664123     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35371     Document Type: Article

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