12q12 deletion: a new patient contributing to genotype-phenotype correlation.
Failla
Pinella
P
Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Romano
Corrado
C
Reitano
Santina
S
Di Benedetto
Daniela
D
Grillo
Lucia
L
Fichera
Marco
M
Castiglia
Lucia
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype