Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Journal of Medical Genetics

Volumn 43, Issue 10, 2006, Pages 822-828

  Bonaglia, Maria Clara ^a   Giorda, R ^a   Mani, E ^a   Aceti, G ^a   Anderlid, B M ^b   Baroncini, A ^c   Pramparo, T ^d   Zuffardi, O ^d,e  

^a SCIENTIFIC INSTITUTE   (Italy)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c AUSL di Imola   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SHANK3 GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; RECURRENCE; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME;

EID: 33750431676     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.038604     Document Type: Article

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