@article{783c28381f6f4c4caedfb064b9383d50,
title = "Recessive MYH3 variants cause {"}Contractures, pterygia, and variable skeletal fusions syndrome 1B{"} mimicking Escobar variant multiple pterygium syndrome",
keywords = "arthrogryposis, {"}Contractures, pterygia, and variable skeletal fusions syndrome 1B{"}, CPSKF1B, Escobar variant of multiple pterygium syndrome, MYH3, spondylocarpotarsal synostosis syndrome, MUTATIONS, PERFORMANCE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "Hakonen, {Anna H.} and Johanna Lehtonen and Sirpa Kivirikko and Riikka Keski-Filppula and Jukka Moilanen and Reetta Kivisaari and Henrikki Almusa and Eveliina Jakkula and Janna Saarela and Kristiina Avela and Kristiina Aittom{\"a}ki",
year = "2020",
month = nov,
doi = "10.1002/ajmg.a.61836",
language = "English",
volume = "182",
pages = "2605--2610",
journal = "American journal of medical genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",
number = "11",
}