Llwytho...

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

We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: Sobreira, Nara, Modaff, Peggy, Steel, Gary, You, Jing, Nanda, Sonia, Hoover-Fong, Julie, Valle, David, Pauli, Richard M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882113/
https://ncbi.nlm.nih.gov/pubmed/25348816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36808
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