Article
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
American journal of medical genetics. Part A - 1 Nov 2020
Hakonen Anna H, Lehtonen Johanna, Kivirikko Sirpa, Keski-Filppula Riikka, Moilanen Jukka, Kivisaari Reetta, Almusa Henrikki, Jakkula Eveliina, Saarela Janna, Avela Kristiina, Aittomäki Kristiina
Abstract excerpt
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 genetic etiology of EVMPS is heterogeneous and the diagnosis has been based either on the detection of pathogenic CHRNG...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.