Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: Frequent 5q35 microdeletion and identification of four novel NSD1 mutations

Journal of Human Genetics

Volumn 58, Issue 2, 2013, Pages 73-77

  Sohn, Young Bae ^a   Lee, Cha Gon ^b   Ko, Jung Min ^c   Yang, Jung Ah ^a   Yun, Jun No ^a   Jung, Eun Jung ^a   Jin, Hyun Seok ^a   Park, Sang Jin ^d   Jeong, Seon Yong ^a  

^a Ajou University School of Medicine   (South Korea)

^b Eulji General Hospital   (South Korea)

^c Seoul National University Children's Hospital   (South Korea)

^d MG MED Inc   (South Korea)

Author keywords

5q35 microdeletion; Macrocephaly; NSD1; overgrowth; Sotos syndrome

Indexed keywords

ADOLESCENT; ARTICLE; BODY HEIGHT; CHILD; CHROMOSOME 5Q; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; JAPANESE; KOREA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEAR RECEPTOR SET DOMAIN CONTAINING PROTEIN 1 GENE; PRESCHOOL CHILD; SCHOOL CHILD; SOTOS SYNDROME; WALKING;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NUCLEAR PROTEINS; REPUBLIC OF KOREA; SOTOS SYNDROME;

EID: 84875446111     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.135     Document Type: Article

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