Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
about
CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.A rare cause of neck swelling in a child.Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN.Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
P2860
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P2860
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@en
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@nl
type
label
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@en
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@nl
prefLabel
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@en
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@nl
P2093
P2860
P356
P1476
Loeys-Dietz syndrome type I an ...... tions in two Italian patients.
@en
P2093
Anita Wischmeijer
Bruno Drera
Marco Ritelli
Maria Gnoli
Marina Colombi
Nicoletta Zoppi
Pier Giacomo Calzavara-Pinton
Rossella Fattori
Sergio Barlati
P2860
P2888
P356
10.1186/1750-1172-4-24
P577
2009-11-02T00:00:00Z
P5875
P6179
1009861420