Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 9, 2008, Pages 1195-1199

  Caselli, Rossella ^a   Mencarelli, Maria Antonietta ^a   Papa, Filomena Tiziana ^a   Ariani, Francesca ^a   Longo, Ilaria ^a   Meloni, Ilaria ^a   Vonella, Giuseppina ^b   Acampa, Maurizio ^a   Auteri, Alberto ^a   Vicari, Stefano ^c   Orsi, Alessandra ^b   Hayek, Giuseppe ^b   Renieri, Alessandra ^a   Mari, Francesca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

7q deletion; Array CGH; Chromosome 7; Fetal anticonvulsant syndrome; KCNH2 gene; Long QT syndrome (LQTS); Renal hypoplasia

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ARM; CHROMOSOME DELETION; FEMALE; GENE; HOLOPROSENCEPHALY; HUMAN; HYPOTELORISM; KCNH2 GENE; KIDNEY HYPOPLASIA; LONG QT SYNDROME; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; ANTICONVULSANTS; BASE SEQUENCE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; DNA PRIMERS; FEMALE; HUMANS; KIDNEY; LONG QT SYNDROME; MALE; MATERNAL-FETAL EXCHANGE; MENTAL RETARDATION; PHENOTYPE; PHENYTOIN; PREGNANCY; SYNDROME;

EID: 43049097148     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32197     Document Type: Article

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