Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1455-1461

  Abdel Salam, Ghada M H ^a   Abdel Hamid, Mohamed S ^a   Issa, Mahmoud ^a   Magdy, Ahmed ^a   El Kotoury, Ahmed ^a   Amr, Khalda ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

3 prime stem loop; 5 prime stem loop; Metopic synostosis; Microcephalic osteodysplastic primordial dwarfism I; Mild phenotype; Trigonocephaly; U4atac snRNA

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ANTEVERTED NOSTRIL; ARM MALFORMATION; ARTICLE; BONE DEFECT; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONVULSION; DEVELOPMENTAL DISORDER; DWARFISM; EAR DISEASE; ELECTROENCEPHALOGRAPHY; ENCEPHALITIS; FEMALE; FEVER; FOOT SURGERY; GENE MUTATION; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LEG MALFORMATION; LONG PHILTRUM; LYMPHEDEMA; MALE; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE 1; MICROCEPHALY; MICROTIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE MALFORMATION; PES EQUINOVARUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REFLEX DISORDER; RETROGNATHIA; SYNOSTOSIS; TOE MALFORMATION; TOOTH DISEASE;

ABNORMALITIES, MULTIPLE; DWARFISM; FACIES; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MICROCEPHALY; MUTATION; NEUROIMAGING; OSTEOCHONDRODYSPLASIAS; PELVIS; PHENOTYPE; RNA, SMALL NUCLEAR;

EID: 84861226016     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35356     Document Type: Article

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