Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

Journal of Medical Genetics

Volumn 48, Issue 11, 2011, Pages 761-766

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

^a GREENWOOD GENETIC CENTER   (United States)

^b CLEMSON UNIVERSITY   (United States)

^c TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CEPHALOMETRY; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EYEBROW; FACE ASYMMETRY; FEEDING DISORDER; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAND DISEASE; HUMAN; HYPOREFLEXIA; INFANT; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MALE GENITAL TRACT MALFORMATION; MUSCLE HYPOTONIA; NAIL DYSPLASIA; NEWBORN; NEWBORN DISEASE; PHELAN MCDERMID SYNDROME; PRIORITY JOURNAL; SHANK3 GENE; SPEECH DISORDER; TALL STATURE; WALKING DIFFICULTY;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 81055156756     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100225     Document Type: Article

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