Lionel AC

ORCID: 0000-0001-7174-7070 · 1 paper in corpus

2013

1q21.1 Microduplication expression in adults.

Genetics in medicine : official journal of the American College of Medical Genetics ·doi:10.1038/gim.2012.129

PurposeRare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling.MethodsA syst…