Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
about
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.N-(2-Aminoethyl) Ethanolamine-Induced Morphological, Biochemical, and Biophysical Alterations in Vascular Matrix Associated With Dissecting Aortic Aneurysm.Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.Pulmonary artery rupture after bilateral pulmonary artery banding in a neonate with Loeys-Dietz syndrome and an interrupted aortic arch complex: report of a case.Dissecting aortic aneurysm induced by N-(2-aminoethyl) ethanolamine in rat: Role of defective collagen during development.TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
P2860
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P2860
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
description
2008 nî lūn-bûn
@nan
2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
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2008年學術文章
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name
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@en
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@nl
type
label
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@en
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@nl
prefLabel
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@en
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@nl
P2093
P356
P1476
Paternal somatic mosaicism of ...... son with Loeys-Dietz syndrome.
@en
P2093
Akira Nishimura
Haruya Sakai
Naomichi Matsumoto
Noriko Miyake
Takeshi Mizuguchi
Yoriko Watanabe
P304
P356
10.1002/AJMG.A.32567
P407
P577
2008-12-01T00:00:00Z