The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type-Reference-Cited by-同舟云学术

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The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Published:2007-04-01 Issue:4 Volume:44 Page:e73-e73
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Nishimura G.,Nakashima E.,Hirose Y.,Cole T.,Cox P.,Cohn D. H,Rimoin D. L,Lachman R. S,Miyamoto Y.,Kerr B.,Unger S.,Ohashi H.,Superti-Furga A.,Ikegawa S.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07

2. Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review;Cureus;2020-01-16

3. Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes;Pediatric Blood & Cancer;2017-08-12

4. Ribosomopathies and the Quality Control of Ribosome Assembly;Congenital and Acquired Bone Marrow Failure;2017

5. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies;American Journal of Medical Genetics Part A;2016-11-26

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