A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
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Title
A novel pathogenic variant in
OFD1
results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-03-21
DOI
10.1002/ajmg.a.61018
References
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