Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
ConclusionThis homozygous missense variant in BMPR1A appears to cause a distinct clinical phenotype.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Bianca E. Russell,
Diana Rigueur,
Kathryn N. Weaver,
Kristen Sund,
Janet S. Basil,
Robert B. Hufnagel,
Cynthia A. Prows,
Alan Oestreich,
Lihadh Al ‐Gazali,
Robert J Hopkin,
Howard M. Saal,
Karen Lyons,
Andrew Dauber Tags: ORIGINAL ARTICLE Source Type: research