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Titel:

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Dokumenttyp:
Article; Early Access; Journal Article
Autor(en):
Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P; Callewaert, Bert L; Cereda, Anna; Cousin, Margot A; Jimenez, Juan C Del Rey; Demmer, Laurie; Dsouza, Nikita R; Fleischer, Nicole; Gavrilova, Ralitza H; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A; McEntagart,...     »
Abstract:
PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers. RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exo...     »
Zeitschriftentitel:
Genet Med
Jahr:
2021
Band / Volume:
23
Heft / Issue:
2
Seitenangaben Beitrag:
384-395
Volltext / DOI:
doi:10.1038/s41436-020-00993-y
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33173220
Print-ISSN:
1098-3600
TUM Einrichtung:
1145; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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