Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E (author)

Myllykoski, M (author)

Hinttala, R (author)

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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, L (author)

Karolinska Institutet

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)

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 (creator_code:org_t)

Elsevier BV, 2019

2019

English.

In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:10, s. 2355-2363

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• Journal article (peer-reviewed)