An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity ofLBR-bone dysplasias-Reference-Cited by-同舟云学术

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity ofLBR-bone dysplasias

Published:2014-10-27 Issue:1 Volume:167 Page:159-163
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sobreira Nara¹,Modaff Peggy²,Steel Gary¹,You Jing¹,Nanda Sonia³,Hoover-Fong Julie¹,Valle David¹,Pauli Richard M.²

Affiliation:

1. Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

2. Midwest Regional Bone Dysplasia Clinic; Department of Pediatrics; University of Wisconsin-Madison; Madison Wisconsin

3. Women's College Hospital; Toronto; Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Variability in kyphomelic dysplasia;Cisarik;Pediatr Radiol,1999

4. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein;Clayton;Nucleus,2010

5. Homozygous form of the Pelger-Huët anomaly;Erice;Haematologica,1999

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