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

ABSTRACT The multiple pterygium syndromes (MPS) are rare disorders with disease severity ranging from lethal to milder forms. The nonlethal Escobar variant MPS (EVMPS) is characterized by multiple pterygia and arthrogryposis, as well as various additional features including congenital anomalies. The...

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Veröffentlicht in:	American journal of medical genetics. Part A 2020-11, Vol.182 (11), p.2605-2610
Hauptverfasser:	Hakonen, Anna H., Lehtonen, Johanna, Kivirikko, Sirpa, Keski‐Filppula, Riikka, Moilanen, Jukka, Kivisaari, Reetta, Almusa, Henrikki, Jakkula, Eveliina, Saarela, Janna, Avela, Kristiina, Aittomäki, Kristiina
Format:	Artikel
Sprache:	eng
Schlagworte:	Arthrogryposis Congenital defects Contractures, pterygia, and variable skeletal fusions syndrome 1B CPSKF1B Differential diagnosis Dysostosis Escobar variant of multiple pterygium syndrome Etiology Mimicry MYH3 Spondylocarpotarsal synostosis spondylocarpotarsal synostosis syndrome Vertebrae
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