NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
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A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal DomainInherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.
P2860
NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
description
article
@en
im März 2014 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2014
@uk
name
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@en
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@nl
type
label
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@en
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@nl
prefLabel
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@en
NovelFBN1gene mutation and mat ...... onatal form of Marfan syndrome
@nl
P2093
P2860
P50
P356
P1476
Novel FBN1 gene mutation and m ...... onatal form of Marfan syndrome
@en
P2093
Antonín Sípek
Lucie Grodecká
Magdaléna Dvořáková
Petra Cibulková
Stella Mazurová
Tomáš Freiberger
P2860
P304
P356
10.1002/AJMG.A.36480
P407
P577
2014-03-25T00:00:00Z