Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1545-1549

  Solomon, Benjamin D ^a   Lange, Eileen ^b   Shubrook, Jay ^c   Service, F John ^d   Herman, Gail ^e   Karne, Rajaram J ^f   Gorden, Phillip ^g   Muenke, Maximilian ^a   Stratakis, Constantine A ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c OHIO UNIVERSITY   (United States)

^d MAYO CLINIC   (United States)

^e OHIO STATE UNIVERSITY   (United States)

^f THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^g NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

8q; 8q24; Microdeletion

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 8Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FRACTURE; HUMAN; HYPOGLYCEMIA; LABORATORY TEST; LYMPHEDEMA; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PRIORITY JOURNAL;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HUMANS; HYPESTHESIA; HYPOGLYCEMIA; LYMPHEDEMA; MIDDLE AGED; SYNDROME;

EID: 77952753302     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33395     Document Type: Article

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