Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

Clinical Genetics

Volumn 76, Issue 3, 2009, Pages 256-262

  Surace, C ^a   Piazzolla, S ^a   Sirleto, P ^a   Digilio, M C ^a   Roberti, M C ^a   Lombardo, A ^a   D'Elia, G ^a   Tomaiuolo, A C ^a   Petrocchi, S ^a   Capolino, R ^a   El Hachem, M ^a   Claps Sepulveda, D ^a   Sgura, A ^b   Angioni, A ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ROMA TRE UNIVERSITY   (Italy)

Author keywords

Fish Metrnl Ring Rph3al Telomere position effect; Fish; Metrnl; Ring; Rph3al; Telomere position effect

Indexed keywords

CHROMOSOME PROTEIN; METEORIN GLIAL CELL DIFFERENTIATION REGULATOR LIKE PROTEIN; RABPHILLIN 3A LIKE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BACTERIOPHAGE P1 ARTIFICIAL CHROMOSOME; CAFE AU LAIT SPOT; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE MAPPING; GROWTH RETARDATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MILLER DIEKER SYNDROME; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RING CHROMOSOME; RING CHROMOSOME 17 SYNDROME; SEIZURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 17; FACIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; RING CHROMOSOMES; SYNDROME;

BACTERIA (MICROORGANISMS);

EID: 70350176461     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01203.x     Document Type: Article

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