TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Whitman, MC (author)

Barry, BJ (author)

Robson, CD (author)

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Facio, FM (author)

Van Ryzin, C (author)

Chan, WM (author)

Lehky, TJ (author)

Thurm, A (author)

Zalewski, C (author)

King, KA (author)

Brewer, C (author)

Almpani, K (author)

Lee, JS (author)

Delaney, A (author)

FitzGibbon, EJ (author)

Lee, PR (author)

Toro, C (author)

Paul, SM (author)

Abdul-Rahman, OA (author)

Webb, BD (author)

Jabs, EW (author)

Moller, HU (author)

Larsen, DA (author)

Antony, JH (author)

Troedson, C (author)

Ma, A (author)

Ragnhild, G (author)

Wirgenes, K (author)

Tham, E (author)

Karolinska Institutet

Kvarnung, M (author)

Karolinska Institutet

Maarup, TJ (author)

MacKinnon, S (author)

Hunter, DG (author)

Collins, FS (author)

Manoli, I (author)

Engle, EC (author)

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 (creator_code:org_t)

2021-10-15

2021

English.

In: Human genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 141140:612, s. 1709-1731

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• Journal article (peer-reviewed)