Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 509-515

  Field, Michael ^a   Tarpey, P ^b   Boyle, J ^a   Edkins, B ^b   Goodship, J ^c   Luo, Y ^d   Moon, J ^d   Teague, J ^b   Stratton, M R ^b   Futreal, P A ^b   Wooster, R ^b   Raymond, F L ^d   Turner, G ^a  

^a GOLD Service   (Australia)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Coffin Lowry syndrome; Nonsyndromic mental retardation; RSK2 mutation

Indexed keywords

ASPARTIC ACID; S6 KINASE; S6 KINASE POLYPEPTIDE 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; COFFIN LOWRY SYNDROME; DIAGNOSTIC ERROR; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; KYPHOSCOLIOSIS; LEARNING DISORDER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; RELIABILITY; SCHOOL CHILD; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; COFFIN-LOWRY SYNDROME; FEMALE; GENETIC SCREENING; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; SEQUENCE ANALYSIS, DNA;

EID: 33750981002     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00723.x     Document Type: Article

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