Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1109-1114

  Franek, Karl J ^a   Butler, Julia ^a   Johnson, John ^b   Simensen, Richard ^a   Friez, Michael J ^a   Bartel, Frank ^a   Moss, Tonya ^a   Dupont, Barbara ^a   Berry, Katherine ^b   Bauman, Margaret ^c   Skinner, Cindy ^a   Stevenson, Roger E ^a   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b Shodair Children's Hospital   (United States)

^c HARVARD UNIVERSITY   (United States)

Author keywords

Behavior problems; Deletion; IL1RAPL1; Non syndromic XLID

Indexed keywords

IMMUNOGLOBULIN; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN LIKE 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATTENTION DISTURBANCE; AUTISM; BEHAVIOR DISORDER; CAFE AU LAIT SPOT; CLINICAL ARTICLE; COGNITIVE DEFECT; COHORT ANALYSIS; CONGENITAL MALFORMATION; DEPRESSION; DISEASE SEVERITY; EXON; GENE AMPLIFICATION; GENE DELETION; GENETIC ASSOCIATION; HUMAN; IMPULSIVENESS; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LENTIGO; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOPIA; PRIORITY JOURNAL; PROTEIN DOMAIN; SPECIAL EDUCATION; SPEECH DISORDER; STRABISMUS; TRINUCLEOTIDE REPEAT; X CHROMOSOME LINKED DISORDER; X LINKED INTELLECTUAL DISABILITY;

AMINO ACID SEQUENCE; FEMALE; GENE DELETION; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MALE; MENTAL DISORDERS; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 79955025731     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33833     Document Type: Article

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