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Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

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  • Authors+Show Affiliations

    ,

    Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

    ,

    Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

    ,

    Department of Orodental Genetics, Orodental Research Division, National Research Centre, Cairo, Egypt.

    Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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    MeSH

    Adolescent
    Bone Development
    Bone and Bones
    Cognition Disorders
    Craniofacial Abnormalities
    Dwarfism
    Fetal Growth Retardation
    Humans
    Male
    Microcephaly
    Osteochondrodysplasias
    Polymorphism, Single Nucleotide
    RNA, Small Nuclear

    Pub Type(s)

    Case Reports
    Letter

    Language

    eng

    PubMed ID

    26419500

    Citation

    Abdel-Salam, Ghada M H., et al. "Long-term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-year-old Male With g.55G>A Homozygous Mutation in RNU4ATAC." American Journal of Medical Genetics. Part A, vol. 170A, no. 1, 2016, pp. 277-82.
    Abdel-Salam GM, Emam BA, Khalil YM, et al. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. Am J Med Genet A. 2016;170A(1):277-82.
    Abdel-Salam, G. M., Emam, B. A., Khalil, Y. M., & Abdel-Hamid, M. S. (2016). Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. American Journal of Medical Genetics. Part A, 170A(1), pp. 277-82. doi:10.1002/ajmg.a.37409.
    Abdel-Salam GM, et al. Long-term Survival in Microcephalic Osteodysplastic Primordial Dwarfism Type I: Evaluation of an 18-year-old Male With g.55G>A Homozygous Mutation in RNU4ATAC. Am J Med Genet A. 2016;170A(1):277-82. PubMed PMID: 26419500.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. AU - Abdel-Salam,Ghada M H, AU - Emam,Bayoumi A, AU - Khalil,Yasmin M, AU - Abdel-Hamid,Mohamed S, Y1 - 2015/09/30/ PY - 2015/04/24/received PY - 2015/09/16/accepted PY - 2015/10/1/entrez PY - 2015/10/1/pubmed PY - 2016/12/30/medline SP - 277 EP - 82 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 170A IS - 1 SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26419500/Long_term_survival_in_microcephalic_osteodysplastic_primordial_dwarfism_type_I:_Evaluation_of_an_18_year_old_male_with_g_55G>A_homozygous_mutation_in_RNU4ATAC_ L2 - https://doi.org/10.1002/ajmg.a.37409 DB - PRIME DP - Unbound Medicine ER -