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