Marchegiani et al., 2015 - Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American journal of human genetics   97(1):99-110 Full text @ Am. J. Hum. Genet.
9 Genes / Markers
Marker Type Symbol Name
Gene actb1 actin, beta 1
Gene efemp2b EGF containing fibulin extracellular matrix protein 2b
Gene fgl2a fibrinogen-like 2a
Gene fmoda fibromodulin a
Gene gfra3 GDNF family receptor alpha 3
Gene hsp70l heat shock cognate 70-kd protein, like
Gene p3h3 prolyl 3-hydroxylase 3
Gene pdgfra platelet-derived growth factor receptor, alpha polypeptide
Gene si:ch211-216b21.2 si:ch211-216b21.2