P4HBrecurrent missense mutation causing Cole-Carpenter syndrome

Title
P4HBrecurrent missense mutation causing Cole-Carpenter syndrome
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume -, Issue -, Pages jmedgenet-2017-104899
Publisher
BMJ
Online
2017-12-21
DOI
10.1136/jmedgenet-2017-104899

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