RPS6KA3 and hemophilia A: For example (Pavlova et al., 2009), described a female patient with severe hemophilia A with extremely skewed X‐inactivation who had two brothers with Coffin Lowry syndrome (a severe X‐linked recessive neurodevelopmental disorder; resulting from a nonsense variant in exon 5 of the RSK2 gene at Xp22.2).