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2024-03-23T03:00:41Z
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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
10.1002/ajmg.a.37338
26286438
000367668600005
Segarra
N.G.
author
Ballhausen
D.
author
Crawford
H.
author
Perreau
M.
author
Campos-Xavier
B.
author
van Spaendonck-Zwarts
K.
author
Vermeer
C.
author
Russo
M.
author
Zambelli
P.Y.
author
Stevenson
B.
author
Royer-Bertrand
B.
author
Rivolta
C.
author
Candotti
F.
author
Unger
S.
author
Munier
F.L.
author
Superti-Furga
A.
author
Bonafé
L.
author
article
casereport
2015
American Journal of Medical Genetics. Part A
1552-4833
1552-4825
journal
167A
12
2902-2912
Abnormalities, Multiple/etiology
Abnormalities, Multiple/genetics
Child
Child, Preschool
Female
Humans
Immune System/physiopathology
Infant
Liver Diseases/genetics
Male
Mutation
Neoplasm Proteins/genetics
Optic Atrophy/genetics
Pelger-Huet Anomaly/etiology
Pregnancy
Retina/pathology
Skin/pathology
eng
60_published
peer-reviewed
Publication types: Case Reports ; Journal Article
Publication Status: ppublish