Baraitser-Winter syndrome
Definition:
Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1.
Biomedical Dictionary
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