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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Wolf NI, et al.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
Neurology. 2014.
PMID: 25339210
Free PMC article.
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Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A.
Würgler Hansen A, Sønderberg Roos LK, Løssl K, Godballe C, Mathiesen JS.
Würgler Hansen A, et al. Among authors: sonderberg roos lk.
Front Endocrinol (Lausanne). 2020 Oct 14;11:572151. doi: 10.3389/fendo.2020.572151. eCollection 2020.
Front Endocrinol (Lausanne). 2020.
PMID: 33178136
Free PMC article.
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