A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Ali, Bassam R ^a   Silhavy, Jennifer L ^b   Akawi, Nadia A ^a   Gleeson, Joseph G ^b   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Acrocallosal; Dysmorphism; Fetal hydrolethalus; Joubert; KIF7; Multiple epiphyseal dysplasia; Sonic hedgehog

Indexed keywords

KIF7 PROTEIN; KINESIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE ASSOCIATION; EXOME; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HOMOZYGOTE; HUMAN; MACROCEPHALY; MALE; MISSENSE MUTATION; MULTIPLE EPIPHYSEAL DYSPLASIA; PHENOTYPE; REGULATOR GENE; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CONSANGUINITY; FACIES; GENES, RECESSIVE; HUMANS; KINESIN; MACROCEPHALY; MAGNETIC RESONANCE IMAGING; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE;

EID: 84860902129     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-27     Document Type: Article

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