Swartz, Jonathan M; Akıncı, Ayşehan; Andrew, Shayne F; Sığırcı, Ahmet; Hirschhorn, Joel N; Rosenfeld, Ron G; Dauber, Andrew; Hwa, ,Vivian
(Hormone Research in Paediatrics, 2014)
Background—Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with
classic features, including short stature, microcephaly, developmental delay, neuropathy, and
photosensitivity. New genomic approaches ...