Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3067-3070

  Strobl Wildemann, Gertrud ^a   Kalscheuer, Vera M ^b   Hu, Hao ^b   Wrogemann, Klaus ^b,c   Ropers, Hans Hilger ^b   Tzschach, Andreas ^b,d  

^a Humangenetik Ulm MVZ   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF MANITOBA   (Canada)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

GDI; GDI1; Rab GTPase; X linked intellectual disability

Indexed keywords

VALPROIC ACID;

ABSENCE; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; ELECTROENCEPHALOGRAPHY; FACIES; FAMILY HISTORY; FRAMESHIFT MUTATION; GDI1 GENE; GENE DELETION; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL HISTORY; MICROCEPHALY; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SEQUENCE ANALYSIS; SPIKE WAVE; X CHROMOSOME LINKED DISORDER;

CHILD; CHILD, PRESCHOOL; EXONS; FACIES; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; GUANINE NUCLEOTIDE DISSOCIATION INHIBITORS; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENOTYPE;

EID: 81955167470     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34291     Document Type: Article

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