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Craniofacial Features of POLR3-related Leukodystrophy Caused by Biallelic Variants in POLR3A, POLR3B and POLR1C.

Amytice Mirchi,Simon-Pierre Guay,Luan T. Tran,Nicole Wolf,Adeline Vanderver,Bernard Brais,Michel Sylvain,Daniela Pohl,Elsa Rossignol, Michael Saito,Sebastien Moutton,Luis Gonzalez-Gutierrez-Solana,Isabelle Thiffault,Michael C. Kruer, Dolores Gonzales Moron,Marcelo Kauffman,Cyril Goizet,Laszlo Sztriha,Emma Glamuzina,Serge B. Melancon,Sakkubai Naidu,Jean-Marc Retrouvey, Suzanne Lacombe,Beatriz Bernardino-Cuesta,Isabelle De Bie,Genevieve Bernard

JOURNAL OF MEDICAL GENETICS（2023）

Cited 3|Views41
Key words
neurology,genetics,neurodegenerative diseases,medical,pediatrics
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