Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
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scientific article published on 03 April 2019
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name
Biallelic loss-of-function P4H ...... abnormalities (HIDEA syndrome)
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type
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Biallelic loss-of-function P4H ...... abnormalities (HIDEA syndrome)
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prefLabel
Biallelic loss-of-function P4H ...... abnormalities (HIDEA syndrome)
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P2093
P1433
P1476
Biallelic loss-of-function P4H ...... abnormalities (HIDEA syndrome)
@en
P2093
Aarno Palotie
Andrea M Lewis
Astrid S Plomp
Günther Bernert
Hannaleena Kokkonen
Hannu Tuominen
Johanna Uusimaa
Jonne Westermann
Jukka Moilanen
Lauri Aaltonen
P304
P356
10.1038/S41436-019-0503-4
P577
2019-04-03T00:00:00Z