A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
Abstract Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuc...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2017-07-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-017-0024-5 |