Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 479-486

  D'Angelo, Carla Sustek ^a   Kohl, Ilana ^a   Varela, Monica Castro ^a   de Castro, Cláudia Irene Emílio ^a   Kim, Chong Ae ^a   Bertola, Débora Romeo ^a   Lourenço, Charles Marques ^a   Perez, Ana Beatriz Alvarez ^b   Koiffmann, Celia Priszkulnik ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Developmental disabilities; DNA copy number variants; Obesity

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCUS; GROWTH RETARDATION; HUMAN; HYPERPHAGIA; HYPOGONADISM; INFANT; LEARNING DISORDER; MALE; MEDICAL HISTORY; MOLECULAR CLONING; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; OBESITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIM1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INFANT; LEARNING DISORDERS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; OBESITY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84874201852     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35761     Document Type: Article

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