Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1666-1676

  Disciglio, Vittoria ^a   Rizzo, Caterina Lo ^a,b   Mencarelli, Maria Antonietta ^a,b   Mucciolo, Mafalda ^a   Marozza, Annabella ^b   Di Marco, Chiara ^a,b   Massarelli, Antonio ^c   Canocchi, Valentina ^c   Baldassarri, Margherita ^a   Ndoni, Enea ^a   Frullanti, Elisa ^a   Amabile, Sonia ^a   Anderlid, Britt Marie ^d   Metcalfe, Kay ^e   Le Caignec, Cédric ^f   David, Albert ^f   Fryer, Alan ^g   Boute, Odile ^h   Joris, Andrieux ^h   Greco, Donatella ⁱ   Pecile, Vanna ^j   Battini, Roberta ^k   Novelli, Antonio ^l   Fichera, Marco ^i,m   Romano, Corrado ⁱ   Mari, Francesca ^a,b   Renieri, Alessandra ^a,b   more..

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c UO Medicina Interna Ospedale Val di Chiana   (Italy)

^d KAROLINSKA INSTITUTE   (Sweden)

^e ST MARY S HOSPITAL   (United Kingdom)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ OASI RESEARCH INSTITUTE IRCCS   (Italy)

^j INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^k DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^l CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^m UNIVERSITY OF CATANIA   (Italy)

more..

Author keywords

22q13.3 deletion; PARVB; Phelan McDermid syndrome; SHANK3; SULT4A1

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FEEDING DIFFICULTY; FEMALE; GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HERITABILITY; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; MUTATOR GENE; PARVB GENE; PHELAN MCDERMID SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHANK3 GENE; SPEECH DELAY; SULT4A1 GENE; CASE REPORT; CHROMOSOME 22; CHROMOSOME DELETION; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; FACIES; GENETICS; SYNDROME;

NERVE PROTEIN; SHANK3 PROTEIN, HUMAN;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; PHENOTYPE; SYNDROME;

EID: 84902546649     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36513     Document Type: Article

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