Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 832-835

  Melis, Daniela ^a   Genesio, Rita ^a   Boemio, Pasquale ^a   Del Giudice, Ennio ^a   Cappuccio, Gerarda ^a   Mormile, Angela ^a   Ronga, Valentina ^a   Conti, Anna ^a   Imperati, Floriana ^a   Nitsch, Lucio ^a   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Deafness; DiGeorge critical region 2; GATA3; HDR

Indexed keywords

ARTICLE; ATROPHY; AUDITORY RESPONSE; CASE REPORT; CELL LEVEL; CHILD; CHROMOSOME 10P; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL FEATURE; CLINODACTYLY; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; CRYPTORCHISM; DIGEORGE SYNDROME; EPICANTHUS; FACE DYSMORPHIA; FOLLOW UP; FOREHEAD; GATA3 GENE; GENE; GENE DELETION; GENE LOCATION; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; GESTATION PERIOD; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; HYPOPLASIA; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PREGNANCY TOXEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCOLIOSIS; SKELETON MALFORMATION; SYNDACTYLY; T LYMPHOCYTE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; DIGEORGE SYNDROME; GATA3 TRANSCRIPTION FACTOR; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOPARATHYROIDISM; MALE; NEPHROSIS; SEQUENCE DELETION;

EID: 84859005503     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34133     Document Type: Article

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