A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Caliebe, Almuth ^a   Martin Subero, Jose I ^a   Muhle, Hiltrud ^a   Gesk, Stefan ^a   Jänig, Ute ^a   Krause, Martin ^a   Plendl, Hansjörg ^a   Stephani, Ulrich ^a   Siebert, Reiner ^a   Eckmann Scholz, Christel ^a  

^a UNIVERSITY OF KIEL   (Germany)

Author keywords

Focal epilepsy with apneic episodes; Hemophagocytic lymphohistiocytosis; Interstitial deletion 14q13; Muscular hypotonia

Indexed keywords

APNEA; ARTICLE; CHILD; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FOCAL EPILEPSY; GENETIC ASSOCIATION; GROWTH RETARDATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; MALE; MUSCLE HYPOTONIA; PNEUMONIA; PRESCHOOL CHILD; TONIC SEIZURE; CASE REPORT; CHROMOSOME 14; FATALITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; INFANT; KARYOTYPING; NEWBORN; PATHOLOGY; PHENOTYPE;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FATAL OUTCOME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; PHENOTYPE;

EID: 79961129620     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.05.005     Document Type: Article

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