Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)-Reference-Cited by-同舟云学术

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

Published:2019-10 Issue:10 Volume:21 Page:2355-2363
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Rahikkala Elisa,Myllykoski Matti,Hinttala Reetta,Vieira Päivi,Nayebzadeh Naemeh,Weiss Simone,Plomp Astrid S.,Bittner Reginald E.,Kurki Mitja I.,Kuismin Outi,Lewis Andrea M.,Väisänen Marja-Leena,Kokkonen Hannaleena,Westermann Jonne,Bernert Günther,Tuominen Hannu,Palotie Aarno,Aaltonen Lauri,Yang Yaping,Potocki Lorraine,Moilanen Jukka,van Koningsbruggen Silvana,Wang Xia,Schmidt Wolfgang M.,Koivunen Peppi,Uusimaa Johanna

Funder

Academy of Finland

Sigrid Juséliuksen Säätiö

Emil Aaltosen Säätiö

Jane ja Aatos Erkon Säätiö

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0503-4.pdf

Reference22 articles.

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