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- Rahikkala, E (author)
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
- Article/chapterEnglish2019
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- Elsevier BV,2019
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- LIBRIS-ID:oai:prod.swepub.kib.ki.se:141975665
- http://kipublications.ki.se/Default.aspx?queryparsed=id:141975665URI
- https://doi.org/10.1038/s41436-019-0503-4DOI
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- Language:English
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- Myllykoski, M (author)
- Hinttala, R (author)
- Vieira, P (author)
- Nayebzadeh, N (author)
- Weiss, S (author)
- Plomp, AS (author)
- Bittner, RE (author)
- Kurki, MI (author)
- Kuismin, O (author)
- Lewis, AM (author)
- Vaisanen, ML (author)
- Kokkonen, H (author)
- Westermann, J (author)
- Bernert, G (author)
- Tuominen, H (author)
- Palotie, A (author)
- Aaltonen, LKarolinska Institutet (author)
- Yang, YP (author)
- Potocki, L (author)
- Moilanen, J (author)
- van Koningsbruggen, S (author)
- Wang, X (author)
- Schmidt, WM (author)
- Koivunen, P (author)
- Uusimaa, J (author)
- Karolinska Institutet (creator_code:org_t)
Related titles
- In:Genetics in medicine : official journal of the American College of Medical Genetics: Elsevier BV21:10, s. 2355-23631530-0366
- In:Genetics in Medicine: Elsevier BV21:10, s. 2355-23631098-3600
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