De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

European Journal of Medical Genetics

Volumn 55, Issue 2, 2012, Pages 117-119

  Perrone, M D ^a   Rocca, M S ^b   Bruno, I ^b   Faletra, F ^b   Pecile, V ^b   Gasparini, P ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Chromosome 1; Deletion; Mental retardation

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; ELECTROCARDIOGRAM; GENE FUNCTION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PSEUDOGENE; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CHROMOSOMES, HUMAN, PAIR 1; DWARFISM; HUMANS; INTELLECTUAL DISABILITY; MALE; SEQUENCE DELETION;

EID: 84857440662     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.11.004     Document Type: Article

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