Recessive MYH3...

American Journal of Medical Genetics Part A 2020 / 11 Vol. 182; Iss. 11

Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B ” mimicking Escobar variant multiple pterygium syndrome

Hakonen, Anna H., Lehtonen, Johanna, Kivirikko, Sirpa, Keski‐Filppula, Riikka, Moilanen, Jukka, Kivisaari, Reetta, Almusa, Henrikki, Jakkula, Eveliina, Saarela, Janna, Avela, Kristiina, Aittomäki,
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Volume:
182
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61836
Date:
November, 2020
File:
PDF, 2.29 MB
2020
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