SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain - Concepedia

Concepedia

Publication | Open Access

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

DOI Full Paper Access

40

Citations

48

References

2019

Year

Richard J.L.F. Lemmers, Nienke van der Stoep, Patrick J. van der Vliet, Steven A. Moore, David San León, Katherine Johnson, Ana Töpf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar,

Journal of Medical Genetics

Abstract

The localisation of missense variants within the ATPase domain of SMCHD1 may contribute to the differences in phenotypic outcome.

References

	Year	Citations

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