The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

Brain and Development

Volumn 36, Issue 4, 2014, Pages 351-355

  Tan, Christopher A ^a   Topper, Scott ^a   Ward Melver, Catherine ^b   Stein, Jennifer ^b   Reeder, Amanda ^a   Arndt, Kelly ^a   Das, Soma ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b AKRON CHILDREN'S HOSPITAL   (United States)

Author keywords

CDK5RAP2; Next generation sequencing; Non consanguineous; Primary autosomal recessive microcephaly

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CDK5RAP2 GENE; CHILD; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MICROCEPHALY; PEDIGREE; PRESCHOOL CHILD; PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY; CAUCASIAN; GENETICS; HIGH THROUGHPUT SEQUENCING;

CDK5RAP2 PROTEIN, HUMAN; NERVE PROTEIN; SIGNAL PEPTIDE;

CHILD; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICROCEPHALY; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84896109382     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.05.001     Document Type: Article

References (11)

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