The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
about
Congenital neutropenia: diagnosis, molecular bases and patient management.SBDS protein expression patterns in the bone marrow.Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
P2860
Q33395402-55CDCBB1-9EA3-428E-9618-4B536A5DFD75Q34034874-967282B1-561C-4DDD-8D4A-D0EF35B44C98Q34088162-E7D065C6-51BC-46B7-9EFB-F37D601DEE07Q37970727-D8EC3A6B-4066-4174-A3EE-57BB96B9EAF2Q40085366-A78A876B-3AD5-4781-881B-D51B33DB5E8BQ41070309-650286B7-6FF9-490D-A7E7-F9913798FAC4Q44816450-CF59C000-ED93-4F7E-A766-E5ED60C214A1Q52954358-E998FB70-6575-490F-AA1C-12860A1716CF
P2860
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
name
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@ast
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@en
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@nl
type
label
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@ast
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@en
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@nl
prefLabel
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@ast
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@en
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@nl
P2093
P2860
P356
P1476
The Shwachman-Bodian-Diamond s ...... esembling SMD Sedaghatian type
@en
P2093
Bronwyn Kerr
Daniel H Cohn
David L Rimoin
Eiji Nakashima
Gen Nishimura
Hirofumi Ohashi
Phillip Cox
Ralph S Lachman
Shiro Ikegawa
Trevor Cole
P2860
P356
10.1136/JMG.2006.043869
P407
P577
2007-04-01T00:00:00Z