title: 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.
authors.affiliation: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Ghada M H
authors.initials: GM
authors.lastname: Abdel-Salam
authors.affiliation: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Bayoumi A
authors.initials: BA
authors.lastname: Emam
authors.affiliation: Department of Orodental Genetics, Orodental Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Yasmin M
authors.initials: YM
authors.lastname: Khalil
authors.affiliation: Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Abdel-Hamid
mesh_terms: D000293:Adolescent; D001846:Bone Development / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D003072:Cognition Disorders / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012342:RNA, Small Nuclear / Q000235:genetics*
chemical_list: D012342:RNA, Small Nuclear; C000590616:RNU4ATAC RNA, human