22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

Genetics in Medicine

Volumn 16, Issue 4, 2014, Pages 318-328

  Sarasua, Sara M ^a,b   Dwivedi, Alka ^a,b   Boccuto, Luigi ^a,b   Chen, Chin Fu ^a,b   Sharp, Julia L ^b,c   Rollins, Jonathan D ^b,c   Collins, Julianne S ^a,b   Rogers, R Curtis ^a,b   Phelan, Katy ^b,d   DuPont, Barbara R ^a,b  

^a GREENWOOD GENETIC CENTER   (United States)

^b CLEMSON UNIVERSITY   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

22q13 deletion syndrome; genotype phenotype; language delay; Phelan McDermid syndrome; SHANK3

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE ASYMMETRY; FEMALE; FUNCTIONAL GENOMICS; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENITAL MALFORMATION; HUMAN; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; NAIL DYSPLASIA; PHELAN MCDERMID SYNDROME; PRESCHOOL CHILD; PROTEIN INTERACTION; RECEIVER OPERATING CHARACTERISTIC; SCHOOL CHILD; SHANK3 GENE; SHORT STATURE; SPEECH DELAY; TALL STATURE; AUTISM; CHROMOSOME 22; CHROMOSOME DELETION; CHROMOSOME DISORDERS; DEVELOPMENTAL LANGUAGE DISORDER; GENETICS; INFANT; PATHOPHYSIOLOGY;

NERVE PROTEIN; SHANK3 PROTEIN, HUMAN;

ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; NERVE TISSUE PROTEINS;

EID: 84898441194     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.144     Document Type: Article

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