Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
about
Psychomotor retardation with a 1q42.11–q42.12 deletionRadiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.Case of acquired or pseudo-Pelger-Huët anomaly.Lamin B Receptor: Interplay between Structure, Function and Localization.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.The progression of the ClinGen gene clinical validity classification over time
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P2860
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@en
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@nl
type
label
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@en
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@nl
prefLabel
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@en
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@nl
P2093
P2860
P356
P1476
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
@en
P2093
Anthony D Krentz
Hans R Waterham
Lior Borovik
Peggy Modaff
Richard M Pauli
P2860
P304
P356
10.1002/AJMG.A.36019
P407
P577
2013-07-03T00:00:00Z