Homozygous variant in : Extending the phenotypic spectrumC21orf2: Extending the phenotypic spectrum in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
Aideen M. McInerney‐Leo; Lawrie Wheeler; Mhairi S. Marshall; Lisa K. Anderson; Andreas Zankl; Matthew A. Brown; Paul J. Leo; Carol Wicking; Emma L. Duncan
Author Information: Translational Genomics Group
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