Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Gene

Volumn 538, Issue 2, 2014, Pages 373-378

  Palumbo, Pietro ^a,b   Antona, Vincenzo ^c   Palumbo, Orazio ^a   Piccione, Maria ^c   Nardello, Rosaria ^c   Fontana, Antonina ^c   Carella, Massimo ^a   Corsello, Giovanni ^c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

Author keywords

17q12; HNF1B; Intellectual disability; Renal Cysts and Diabetes syndrome; SNP array

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOSOME; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME 17Q12; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINODACTYLY; DNA POLYMORPHISM; ECHOCARDIOGRAPHY; EXON; FACE ASYMMETRY; GENOTYPE; GREAT VESSELS TRANSPOSITION; HAPLOTYPE; HEAD CIRCUMFERENCE; HUMAN; HYPOTELORISM; INTELLECTUAL IMPAIRMENT; LONG PHILTRUM; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; OBESITY; PARENT; PHENOTYPE; PHYSICAL EXAMINATION; PLAGIOCEPHALY; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; STANDING;

17Q12; HNF1B; INTELLECTUAL DISABILITY; RENAL CYSTS AND DIABETES SYNDROME; SNP ARRAY;

ABNORMALITIES, MULTIPLE; ACETYL-COA CARBOXYLASE; AUTISTIC DISORDER; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HAPLOINSUFFICIENCY; HAPLOTYPES; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; LIM-HOMEODOMAIN PROTEINS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 84893922898     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.01.050     Document Type: Article

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