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 :: Abdel-Salam GM
Emam BA
Khalil YM
Abdel-Hamid MS
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jan; Vol. 170A (1), pp. 277-82. Date of Electronic Publication: 2015 Sep 30.
Publication Year :: 2016

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

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