Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 39-42

  Walsh, Diana M ^a   Shalev, Stavit A ^b,c   Simpson, Michael A ^d   Morgan, Neil V ^a   Gelman Kohan, Zulema ^b   Chemke, Juan ^b   Trembath, Richard C ^d   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b HAEMEK MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

Acrocallosal syndrome; Ciliopathy; KIF7 mutation; Primary cilia

Indexed keywords

AHI1 PROTEIN; BBS2 PROTEIN; BBS4 PROTEIN; KIF7 PROTEIN; KINESIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ACROCALLOSAL SYNDROME; ADULT; ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; EXOME; FOLLOW UP; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; INHERITANCE; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR GENETICS; OLIGOGENIC INHERITANCE; PHENOTYPE; PROTEIN DOMAIN; SEIZURE;

ACROCALLOSAL SYNDROME; ADOLESCENT; BASE SEQUENCE; CHILD; CONSANGUINITY; FOLLOW-UP STUDIES; GENE ORDER; HOMOZYGOTE; HUMANS; KINESIN; MALE; MULTIFACTORIAL INHERITANCE; MUTATION; PEDIGREE; SIBLINGS; YOUNG ADULT;

EID: 84871680342     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.10.004     Document Type: Article

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