POLR3A-related disorders: expanding the clinical phenotype-Reference-Cited by-同舟云学术

POLR3A-related disorders: expanding the clinical phenotype

Published:2024-02-27 Issue:6 Volume:271 Page:3635-3638
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

McKenna Mary Clare^ORCID,O’Connor Antoinette,Lockhart Andrew,Bogdanova-Mihaylova Petya,Brett Francesca,Langan Yvonne,Meaney James,Costigan Donal,Doherty Colin P.,Bede Peter,Murphy Sinéad M.,Hutchinson Siobhán

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12265-9.pdf

Reference13 articles.

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3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

4. La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G (2016) Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86:1622–1626

5. Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC (2018) Specific combinations of biallelic POLR3A variants cause Wiedemann–Rautenstrauch syndrome. J Med Genet 55:837–846

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