Swartz, Jonathan M.; Akıncı, Ayşehan; Andrew, Shayne F.; Sığırcı, Ahmet; Andrew, Shayne F.; Hirschhorn, Joel N; Rosenfeld, Ron G.; Dauber, Andrew; Hwa, Vivian
(HealthMED, 2013)
Background—Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with
classic features, including short stature, microcephaly, developmental delay, neuropathy, and
photosensitivity. New genomic approaches ...