Novel no-stop FLNA mutation causes multi-organ involvement in males
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Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Laparoscopic transperitoneal left adrenalectomy and wandering spleen risk.47 patients with FLNA associated periventricular nodular heterotopiaFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
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P2860
Novel no-stop FLNA mutation causes multi-organ involvement in males
description
article
@en
im Juli 2013 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в липні 2013
@uk
name
Novel no-stop FLNA mutation causes multi-organ involvement in males
@en
Novel no-stop FLNA mutation causes multi-organ involvement in males
@nl
type
label
Novel no-stop FLNA mutation causes multi-organ involvement in males
@en
Novel no-stop FLNA mutation causes multi-organ involvement in males
@nl
prefLabel
Novel no-stop FLNA mutation causes multi-organ involvement in males
@en
Novel no-stop FLNA mutation causes multi-organ involvement in males
@nl
P2093
P2860
P356
P1476
Novel no-stop FLNA mutation causes multi-organ involvement in males
@en
P2093
Alice S Brooks
Barbara J Sibbles
Dicky J J Halley
Grazia M S Mancini
Irenaeus F M de Coo
Jessie M Hulst
Leontine M A van Unen
Marguerite E I Schipper
Marie C Y de Wit
Rachel Schot
P2860
P304
P356
10.1002/AJMG.A.36109
P407
P577
2013-07-19T00:00:00Z