Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 43-48

  Zaki, M S ^a   Gillessen Kaesbach, G ^b   Vater, I ^c   Caliebe, A ^c   Siebert, R ^c   Kamel, A K ^a   Mohamed, A M ^a   Mazen, I ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Absent phallus; Agenesis of corpus callosum; BEEC; Bladder exstrophy; Monosomy 1q; Terminal deletion 1q

Indexed keywords

OXCARBAZEPINE;

ABSENT PHALLUS; ARTICLE; BLADDER EXSTROPHY; BRUXISM; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CORPUS CALLOSUM AGENESIS; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENITAL MALFORMATION; GENOTYPE; GROWTH RETARDATION; HEART DISEASE; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY LOSS; HUMAN; HYPERTELORISM; HYPOGONADISM; INTERMITTENT STRABISMUS; MALE; MICROCEPHALY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORCHIDOPEXY; PALPEBRAL FISSURE ANOMALY; PENIS; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCROTUM DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; UROGENITAL TRACT MALFORMATION; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; BLADDER EXSTROPHY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENITAL DISEASES, MALE; HUMANS; MALE; NEUROIMAGING; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 84857189231     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.09.003     Document Type: Article

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