A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism

European Journal of Medical Genetics

Volumn 55, Issue 6-7, 2012, Pages 437-440

  Jonsson, Dagur Ingi ^a,b   Ludvigsson, Petur ^b   Aradhya, Swaroop ^c   Sigurdardottir, Sunna ^a,b   Steinarsdottir, Margret ^a,b   Hauksdottir, Helga ^a,b   Jonsson, Jon Johannes ^a,b  

^a UNIVERSITY OF ICELAND   (Iceland)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c GENEDX   (United States)

Author keywords

Array CGH; Arthrogryposis; HOX genes; Intellectual disability; Microdeletion

Indexed keywords

AAAS PROTEIN; AMRH2 PROTEIN; HOXC PROTEIN; PROTEIN; RARG PROTEIN; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; BONE MALFORMATION; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHROMOSOME 12Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONTRACTURE; COPY NUMBER VARIATION; FEMALE; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; MENTAL DEVELOPMENT; MOTOR DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; FEMALE; GENE DOSAGE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY;

EID: 84862163329     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.001     Document Type: Article

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