Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
Tolmacheva, Ekaterina, Bolshakova, Anna S, Shubina, Jekaterina, Rogacheva, Margarita S, Ekimov, Alexey N, Podurovskaya, Julia L, Burov, Artem A, Rebrikov, Denis V, Bychenko, Vladimir G, Trofimov, Dmitry Yu, Sukhikh, Gennady T
Published in BMC medical genomics (14.05.2024)
Published in BMC medical genomics (14.05.2024)
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