Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature

Molecular Syndromology

Volumn 6, Issue 4, 2015, Pages 173-180

  Ibisler, Aysegül ^a   Hehr, Ute ^b   Barth, Andre ^c   Koch, Margarete ^c   Epplen, Jörg T ^a   Hoffjan, Sabine ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c UNIVERSITY OF WITTEN HERDECKE   (Germany)

Author keywords

Acrocallosal syndrome; Agenesis of corpus callosum; Ciliopathy; KIF7; Sonic hedgehog pathway

Indexed keywords

ANTICONVULSIVE AGENT; SONIC HEDGEHOG PROTEIN;

ACROCALLOSAL SYNDROME; ANEURYSM; ANTERIOR FONTANEL; ANTEVERTED NOSTRIL; ANTICONVULSANT THERAPY; APGAR SCORE; ASPIRATION PNEUMONIA; BLOOD; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; ELECTROENCEPHALOGRAM; EXOPHTHALMOS; FACIES; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETICS; HALLUX; HAND; HEART RIGHT VENTRICLE; HOMOZYGOSITY; HUMAN; HYPERTELORISM; HYPOPLASIA; INFANT; JOUBERT SYNDROME; KARYOTYPING; KIF7 GENE; LIMB DEVELOPMENT; LIMB MALFORMATION; MACROCEPHALY; MACROSOMIA; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICARDIAL EFFUSION; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; RESUSCITATION; RETROGNATHIA; REVIEW; SEIZURE; STEREOTYPY; THROMBOCYTOPENIA; TUNISIAN; ULTRASOUND;

EID: 84945902163     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000439414     Document Type: Review

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