Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
about
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaAssociation of mutations in FLNA with craniosynostosis.Maxillofacial Changes in Melnick-Needles SyndromeFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.Fetal phenotypes in otopalatodigital spectrum disorders.Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.Deletion of filamin A in two female patients with periventricular nodular heterotopia
P2860
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P2860
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@ast
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@en
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@nl
type
label
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@ast
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@en
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@nl
prefLabel
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@ast
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@en
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@nl
P2093
P2860
P356
P1476
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
@en
P2093
P2860
P304
P356
10.1159/000320184
P577
2010-09-14T00:00:00Z