Jonathan M Swartz et al.
Hormone research in paediatrics, 82(5), 344-352 (2014-11-08)
Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. Whole-exome sequencing was employed to study a consanguineous extended family with severe