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Recessive MYH3 variants cause "Contractures, pterygia, and ..:
Hakonen, Anna H.
;
Lehtonen, Johanna
;
Kivirikko, Sirpa
...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2605-2610 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61836
RT Journal T1 <Title>Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61836&Exemplar=1&LAN=DE A1 Hakonen, Anna H. A1 Lehtonen, Johanna A1 Kivirikko, Sirpa A1 Keski‐Filppula, Riikka A1 Moilanen, Jukka A1 Kivisaari, Reetta A1 Almusa, Henrikki A1 Jakkula, Eveliina A1 Saarela, Janna A1 Avela, Kristiina A1 Aittomäki, Kristiina PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 182 IS 11 SP 2605 OP 2610 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61836 DO https://doi.org/10.1002/ajmg.a.61836 SF ELIB - SuUB Bremen
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