Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Autor: Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP
Jazyk: angličtina
Zdroj: American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 669.
DOI: 10.1016/j.ajhg.2019.08.007
Databáze: MEDLINE