A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

Am J Med Genet A. 2015 Apr;167A(4):919-21. doi: 10.1002/ajmg.a.36955. Epub 2015 Mar 3.

Authors

Esra Kilic¹, Gökhan Yigit, Gülen Eda Utine, Bernd Wollnik, Ercan Mihci, Banu Güzel Nur, Koray Boduroglu

Affiliation

¹ Faculty of Medicine, Division of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

PMID: 25735804
DOI: 10.1002/ajmg.a.36955

No abstract available

Publication types

Case Reports

MeSH terms

DNA Mutational Analysis
Dwarfism / diagnosis*
Dwarfism / genetics
Fetal Growth Retardation / diagnosis*
Fetal Growth Retardation / genetics
Genetic Association Studies
Humans
Infant
Male
Microcephaly / diagnosis*
Microcephaly / genetics
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics
Point Mutation
RNA, Small Nuclear / genetics*

Substances

RNA, Small Nuclear
RNU4ATAC RNA, human

Supplementary concepts

Microcephalic osteodysplastic primordial dwarfism, type 1