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HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:
Kraatari‐Tiri, Minna
;
Soikkonen, Leila
;
Myllykoski, Matti
...
Clinical Genetics. 102 (2022) 5 - p. 444-450 , 2022
Link:
https://doi.org/10.1111/cge.14203
RT Journal T1 <Title>HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14203&Exemplar=1&LAN=DE A1 Kraatari‐Tiri, Minna A1 Soikkonen, Leila A1 Myllykoski, Matti A1 Jamshidi, Yalda A1 Karimiani, Ehsan G. A1 Komulainen‐Ebrahim, Jonna A1 Kallankari, Hanna A1 Mignot, Cyril A1 Depienne, Christel A1 Keren, Boris A1 Nougues, Marie‐Christine A1 Alsahlawi, Zahra A1 Romito, Antonio A1 Martini, Javier A1 Toosi, Mehran B. A1 Carroll, Christopher J. A1 Tripolszki, Kornelia A1 Bauer, Peter A1 Uusimaa, Johanna A1 Bertoli‐Avella, Aida M. A1 Koivunen, Peppi A1 Rahikkala, Elisa PB Wiley YR 2022 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 102 IS 5 SP 444 OP 450 LK http://dx.doi.org/https://doi.org/10.1111/cge.14203 DO https://doi.org/10.1111/cge.14203 SF ELIB - SuUB Bremen
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