Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

Journal of Medical Genetics

Volumn 51, Issue 12, 2014, Pages 814-816

  Shaheen, Ranad ^a   Al Tala, Saeed ^b   Almoisheer, Agaadir ^a   Alkuraya, Fowzan S ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Department of Pediatrics Armed Forces Hospitals Programme Southern Region ^*  (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

POLO LIKE KINASE; POLO LIKE KINASE 4; UNCLASSIFIED DRUG; PLK4 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ARTICLE; CASE REPORT; CENTRIOLE; CHILD; DWARFISM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; LINKAGE ANALYSIS; MALE; MICROGNATHIA; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PRIMORDIAL DWARFISM; PRIORITY JOURNAL; PROTEIN FUNCTION; SAUDI ARABIA; SECKEL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; ZYGOSITY; CHROMOSOME MAP; CONSANGUINITY; FACIES; GENE ORDER; GENETICS; INFANT; MICROCEPHALY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; QUANTITATIVE TRAIT LOCUS;

CENTRIOLES; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DWARFISM; FACIES; FEMALE; GENE ORDER; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; QUANTITATIVE TRAIT LOCI;

EID: 84920890691     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102790     Document Type: Article

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