Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
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Title
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
Authors
Keywords
Growth Hormone Deficiency, Splice Site Mutation, Joubert Syndrome, Breathing Abnormality, Oculomotor Apraxia
Journal
HUMAN GENETICS
Volume 136, Issue 4, Pages 399-408
Publisher
Springer Nature
Online
2017-02-20
DOI
10.1007/s00439-017-1765-z
References
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