19
Jul
2q32 Deletion (Vascular Ehlers-Danlos Syndrome)
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2q32 Deletion (Vascular Ehlers-Danlos Syndrome) Deletions of 2q32 are not very common, but individuals may present with the well characterized Vascular Ehlers-Danlos Syndrome (vEDS). vEDS is caused by mutations in the COL3A1 gene, which is located within the 2q32 region1. There are several key characteristics of vEDS including vascular and... Read More
14
Mar
2q33 Deletion
2q33 Deletion The chromosomal segment 2q33 includes several genes. One of these genes – SATB2 is a key transcription factor that aids in neural development and activates several other genes simultaneously. When it is absent, cortico-cortical neurons cannot be specified and axons cannot cross the corpus callosum1. Defects in this... Read More
30
Jan
Haydn Kirkwood Kramer in Memoriam
Haydn Kirkwood Kramer May 02, 1991 – January 22, 2020 You came into this world on a warm spring day in May. Life was a challenge from the beginning. Unable to breathe on your own, you were resuscitated only to be whisked away to the NICU less than 24 hours... Read More
