New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3035-3041

  Zaki, Maha S ^a   Salam, Ghada M H Abdel ^a   Saleem, Sahar N ^b   Dobyns, William B ^c   Issa, Mahmoud Y ^a   Sattar, Shifteh ^d   Gleeson, Joseph G ^d  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b CAIRO UNIVERSITY   (Egypt)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cerebellar hypoplasia; Heart block; Insulin dependent diabetes; Mental retardation; Microcephaly

Indexed keywords

ESTROGEN; FOLLITROPIN; GLUCOSE; LUTEINIZING HORMONE; PROGESTERONE;

ADOLESCENT; ARTICLE; ATRIOVENTRICULAR BLOCK; BRADYCARDIA; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSTONIA; EIF2AK3 GENE; ELECTROCARDIOGRAM; FACIES; FAMILY HISTORY; FEMALE; GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENITAL SYSTEM EXAMINATION; GLUCOSE TOLERANCE TEST; GROWTH RETARDATION; HEART MUSCLE CONDUCTION DISTURBANCE; HOLTER MONITORING; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SKULL MALFORMATION;

ADOLESCENT; BRAIN; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS, TYPE 1; FACIES; FEMALE; GENES, RECESSIVE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 81955164788     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34078     Document Type: Article

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