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 Jan;170A(1):277-82. doi: 10.1002/ajmg.a.37409. Epub 2015 Sep 30.

Authors

Ghada M H Abdel-Salam¹, Bayoumi A Emam¹, Yasmin M Khalil², Mohamed S Abdel-Hamid³

Affiliations

¹ Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
² Department of Orodental Genetics, Orodental Research Division, National Research Centre, Cairo, Egypt.
³ Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

PMID: 26419500
DOI: 10.1002/ajmg.a.37409

No abstract available

Publication types

Case Reports
Letter

MeSH terms

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

Substances

RNA, Small Nuclear
RNU4ATAC RNA, human

Supplementary concepts

Microcephalic osteodysplastic primordial dwarfism, type 1