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European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 646-650

1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

(4) Rødningen, Olaug K a Prescott, Trine b Eriksson, Ann Sofie c Røsby, Oddveig a

a ULLEVÅL UNIVERSITY HOSPITAL (Norway)

b OSLO UNIVERSITY HOSPITAL (Norway)

c Department of Pediatrics (Norway)

Author keywords

22q11.2 distal deletion syndrome; Developmental delay; EEG; Encopresis; Epilepsy; Hypoplastic alae nasi; Microcephaly; Sensorineural hearing loss; Simple ears; Smooth philtrum; Speech delay; Straight eyebrows

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; DEVELOPMENTAL DISORDER; EPILEPTOGENESIS; FACE DYSMORPHIA; FECES INCONTINENCE; FEMALE; GENE DELETION; GROWTH RETARDATION; HUMAN; MALE; MICROCEPHALY; PERCEPTION DEAFNESS; PHENOTYPE; PHILTRUM; RECURRENT DISEASE; TREATMENT RESPONSE; CHROMOSOME 22; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; NEWBORN; SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME;

EID: 56649088234 PISSN: 17697212 EISSN: None Source Type: Journal
DOI: 10.1016/j.ejmg.2008.07.007 Document Type: Article

Times cited : (26)

References (4)

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