Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

European Journal of Medical Genetics

Volumn 57, Issue 4, 2014, Pages 181-184

  Dhamija, Radhika ^a   Graham, John M ^b   Smaoui, Nizar ^c   Thorland, Erik ^a   Kirmani, Salman ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c GENEDX   (United States)

Author keywords

Agenesis of corpus callosum; Developmental delay; Exome sequencing; Microcephaly; MRI; SPOCK1 mutation

Indexed keywords

ASPARTIC ACID; PROTEOGLYCAN; TESTICAN 1; UNCLASSIFIED DRUG; VALINE; SPOCK1 PROTEIN, HUMAN;

ABERRANT SUBCLAVIAN ARTERY; ADULT; APRAXIA; ARTERY MALFORMATION; ARTICLE; CASE REPORT; CHROMOSOME 5Q; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DYSARTHRIA; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYDROPHOBICITY; MICROCEPHALY; MISSENSE MUTATION; NERVOUS SYSTEM DEVELOPMENT; PHENOTYPE; PRENATAL PERIOD; SPOCK1 GENE; ADOLESCENT; GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PROCEDURES;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AGENESIS OF CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; MICROCEPHALY; MUTATION, MISSENSE; PROTEOGLYCANS;

EID: 84898428314     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.02.009     Document Type: Article

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