Mosaic microdeletion 18q21 as a cause of mental retardation

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 396-399

  Stavropoulos, Dimitri J ^a,b   MacGregor, Daune L ^a   Yoon, Grace ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Mosaic deletion 18q21; Pitt Hopkins syndrome; TCF4

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18Q; CHROMOSOME DELETION; CHROMOSOME G BAND; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; GENE; GENE LOSS; HAND MOVEMENT; HUMAN; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MOTOR RETARDATION; NUCLEOTIDE SEQUENCE; PITT HOPKINS SYNDROME; SCHOOL CHILD; TCF 4 GENE;

ABNORMALITIES, MULTIPLE; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; CHROMOSOMES, HUMAN, PAIR 18; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FACIES; FEMALE; GENE DELETION; HUMANS; HYPERVENTILATION; MENTAL RETARDATION; MICROCEPHALY; TRANSCRIPTION FACTORS;

EID: 78349304611     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.08.005     Document Type: Article

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