Yael Dinur Schejter Adi Ovadia Roumiana Alexandrova Bhooma Thiruvahindrapuram Sergio L Pereira David E Manson Ajoy Vincent Daniele Merico Chaim M Roifman
10.1038/s41525-017-0024-5
NPJ Genom Med
2017 Jul 10;2:23.
CC BY
https://pubmed.ncbi.nlm.nih.gov/29263834/
Case Reports
PMC5677950
29263834
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
2017