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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

American Journal of Medical Genetics. Part A, v.155A no.11, 2011년, pp.2885 - 2896  

Abdel‐Salam, Ghada M.H. (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Miyake, Noriko (Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt) ,  Eid, Maha M. (Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt) ,  Abdel‐Hamid, Mohamed S. (Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo, Egypt) ,  Hassan, Nihal A. (Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt) ,  Eid, Ola M. (Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt) ,  Effat, Laila K. (Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt) ,  El‐Badry, Tarek H. (Clinical Genetics Department, Human Genetics and Genome Researc) ,  El‐Kamah, Ghada Y. ,  El‐Darouti, Mohamed ,  Matsumoto, Naomichi

Abstract ▼ AI-Helper 아이콘AI-Helper

AbstractThe designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and gen...

주제어

#microcephalic osteodysplastic primordial dwarfism I (MOPD I)   #abnormal gyral pattern   #pigmentary disorder   #hypogenesis of corpus callosum   #chilblains   #fair skin   #U4atac snRNA   #vasculopathy   #retinal pigmentation   #microdontia  

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