12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2925-2930

  Alyaqoub, Fadel ^a   Pyatt, Robert E ^a,b   Bailes, Andrea ^a   Brock, Amanda ^a   Deeg, Carol ^a   Mckinney, Aimee ^a   Astbury, Caroline ^a,b   Reshmi, Shalini ^a,b   Shane, Kate P ^b   Thrush, Devon Lamb ^a,b   Sommer, Annemarie ^a,b   Gastier Foster, Julie M ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

12q14 microdeletion; HMGA2; LEMD3; Osteopoikilosis; Short stature

Indexed keywords

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DISRUPTION; GENE LOSS; GENETIC ASSOCIATION; GRIP1 GENE; GROWTH RETARDATION; HMGA2 GENE; HUMAN; IRAK3 GENE; LEMD3 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SPEECH DISORDER;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; DWARFISM; FEMALE; HMGA2 PROTEIN; HUMANS; SYNDROME;

EID: 84867866394     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35610     Document Type: Article

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