Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1875-1881

  Abdel Salam, Ghada M H ^a   Abdel Hamid, Mohamed S ^a   Hassan, Nihal A ^b   Issa, Mahmoud Y ^a   Effat, Laila ^a   Ismail, Samira ^a   Aglan, Mona S ^a   Zaki, Maha S ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b CAIRO UNIVERSITY   (Egypt)

Author keywords

Abnormal gyral pattern; Interhemispheric cyst; Microcephalic osteodysplastic primordial dwarfism I (MOPD I); Molar tooth sign; Pigmentary disorder; RNU4ATAC; Vasculopathy

Indexed keywords

ARTICLE; BRAIN HEMATOMA; BRAIN HEMORRHAGE; BRAIN MALFORMATION; BREECH PRESENTATION; CLINICAL ARTICLE; COLD INJURY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DWARFISM; EGYPTIAN; ELECTROCARDIOGRAM; ETHNICITY; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERKERATOSIS; INFANT; LOW BIRTH WEIGHT; MALE; MATERNAL HYPERTENSION; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I; MICROGNATHIA; MICROPENIS; MICROTIA; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULAR ALBINISM; OPHTHALMOLOGY; PATENT FORAMEN OVALE; PHENOTYPE; PIGMENT DISORDER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; REFLEX DISORDER; RETINA PIGMENT DEGENERATION; RNU4ATAC GENE; SCANTY HAIR;

ABNORMAL GYRAL PATTERN; INTERHEMISPHERIC CYST; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM I (MOPD I); MOLAR TOOTH SIGN; PIGMENTARY DISORDER; RNU4ATAC; VASCULOPATHY;

ABNORMALITIES, MULTIPLE; ADULT; CORPUS CALLOSUM; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; HEMATOMA; HUMANS; INFANT, NEWBORN; MALE; MICROCEPHALY; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PIGMENTATION DISORDERS; RIBONUCLEOPROTEINS, SMALL NUCLEOLAR; THALAMIC DISEASES; YOUNG ADULT;

EID: 84880731937     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36009     Document Type: Article

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