Four novel RSK2 mutations in females with Coffin-Lowry syndrome

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 268-273

  Jurkiewicz, Dorota ^a   Jezela Stanek, Aleksandra ^a   Ciara, Elzbieta ^a   Piekutowska Abramczuk, Dorota ^a   Kugaudo, Monika ^a   Gajdulewicz, Maria ^a   Chrzanowska, Krystyna ^a   Popowska, Ewa ^a   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

CLS females; Coffin Lowry syndrome; MLPA; RSK2 mutations; X chromosome inactivation

Indexed keywords

PROTEIN SERINE THREONINE KINASE; RSK2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; X CHROMOSOME INACTIVATION;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; COFFIN-LOWRY SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE; RIBOSOMAL PROTEIN S6 KINASES; X CHROMOSOME INACTIVATION;

EID: 77956925966     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.07.006     Document Type: Article

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