De novo mutations in PLXND1 and REV3L cause Möbius syndrome
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Assessment of copy number variations in 120 patients with Poland syndrome.Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey StudyMoebius sequence -a multidisciplinary clinical approach.An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.Brainstem tegmental lesions in neonates with hypoxic-ischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome.Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.Moebius syndrome: clinical features, diagnosis, management and early intervention.Rev1 contributes to proper mitochondrial function via the PARP-NAD+-SIRT1-PGC1α axis.PlexinD1 signaling controls morphological changes and migration termination in newborn neurons.A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
P2860
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P2860
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
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2015年學術文章
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2015年學術文章
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name
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@ast
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@en
type
label
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@ast
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@en
prefLabel
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@ast
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@en
P2093
P2860
P50
P356
P1476
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
@en
P2093
Alexander Hoischen
Anastasia Tsaalbi-Shtylik
Arjan P M de Brouwer
Corrie Erasmus
Ellen van Beusekom
George W Padberg
Han Brunner
Harriette Verzijl
Hülya Kayserili
Jacob G Jansen
P2860
P2888
P356
10.1038/NCOMMS8199
P407
P50
P577
2015-06-12T00:00:00Z