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Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype |
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| Authors: | Britt‐Marie Anderlid Johanna Lundin Helena Malmgren Mikael Lehtihet Ann Nordgren |
| Affiliation: | 1. Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden;2. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;3. Department of Medicine/Huddinge, Karolinska Institutet and Centre for Andrology and Sexual Medicine, Karolinska University Hospital, Stockholm, Sweden |
| Abstract: | |
| Keywords: | Prader– Willi atypical deletion mosaicism SNRF‐SNRPN SnoRNAs array‐CGH |