Publications:

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

European Journal Of Human Genetics : Ejhg

Smogavec, Mateja M; Gerykova Bujalkova, Maria M; Lehner, Reinhard R; Neesen, Jürgen J; Behunova, Jana J; Yerlikaya-Schatten, Gülen G; Reischer, Theresa T; Altmann, Reinhard R; Weis, Denisa D; Duba, Hans-Christoph HC; Laccone, Franco F

Publication Date: 2022-04

Variant appearance in text: KMT2D: 5642_5644+1del

PubMed Link: 34974531

Variant Present in the following documents:

• Main text
• 41431_2021_Article_1012.pdf

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