Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1349-1353

  Kuroda, Yukiko ^a   Ohashi, Ikuko ^a   Naruto, Takuya ^a   Ida, Kazumi ^a   Enomoto, Yumi ^a   Saito, Toshiyuki ^a   Nagai, Jun Ichi ^a   Wada, Takahito ^a   Kurosawa, Kenji ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

KIAA2022; Next generation sequencing; Targeted sequencing; X linked intellectual disability

Indexed keywords

CYCLOSPORIN; LIOTHYRONINE; THYROTROPIN; THYROXINE; NERVE PROTEIN; XPN PROTEIN, HUMAN;

ARTICLE; AUTISM; BODY HEIGHT; BODY WEIGHT; CHILD; CHILD DEVELOPMENT; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FEMALE; GENE; GENE DUPLICATION; GESTATIONAL AGE; GROWTH RETARDATION; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HUMAN; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; JAPANESE (PEOPLE); KARYOTYPE; KIAA2022 GENE; MALE; MUSCLE HYPOTONIA; NEPHROTIC SYNDROME; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SEQUENCE ANALYSIS; STEROID DEPENDENT NEPHROTIC SYNDROME; TARGETED SEQUENCING; X CHROMOSOME LINKED DISORDER; ALLELE; AUTISTIC DISORDER; CONGENITAL HYPOTHYROIDISM; GENE EXPRESSION; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; INTELLECTUAL DISABILITY; MISSENSE MUTATION; PATHOLOGY; PEDIGREE; X CHROMOSOMAL INHERITANCE;

ALLELES; AUTISTIC DISORDER; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; GENE EXPRESSION; GENES, X-LINKED; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 84929954103     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37002     Document Type: Article

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