Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Title
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Authors
Keywords
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Journal
MOLECULAR GENETICS AND METABOLISM
Volume 113, Issue 3, Pages 161-170
Publisher
Elsevier BV
Online
2014-04-13
DOI
10.1016/j.ymgme.2014.04.001

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