A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 611-618

  Castronovo, Chiara ^a,b   Rusconi, Daniela ^a,b   Crippa, Milena ^a   Giardino, Daniela ^a   Gervasini, Cristina ^c   Milani, Donatella ^d   Cereda, Anna ^e   Larizza, Lidia ^a,c   Selicorni, Angelo ^e   Finelli, Palma ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e SAN GERARDO HOSPITAL   (Italy)

Author keywords

Chromosome 5q35.3; Heterozygous intragenic deletion; Mosaicism; Sotos syndrome

Indexed keywords

ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EXON; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE IDENTIFICATION; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HUMAN; INTRON; MALE; MOTOR DEVELOPMENTAL DELAY; MUTATIONAL ANALYSIS; NSD1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SOMATIC MUTATION; SOTOS SYNDROME; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HETEROZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MOSAICISM; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE DELETION;

EID: 84874209179     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35814     Document Type: Article

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