Novel no-stop FLNA mutation causes multi-organ involvement in males (Q57200446)

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5 March 2020

title

Novel no-stop FLNA mutation causes multi-organ involvement in males (English)

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12

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2

Jessie M Hulst

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5 March 2020

Marguerite E I Schipper

7

object named as

Marguerite E I Schipper

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author name string

Renske Oegema

1

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Rachel Schot

5

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Veerle Nanninga

11

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Sabine D M Theuns-Valks

3

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Leontine M A van Unen

4

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Grazia M S Mancini

6

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Marie C Y de Wit

8

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Barbara J Sibbles

9

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Irenaeus F M de Coo

10

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Dicky J J Halley

13

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Alice S Brooks

14

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language of work or name

English

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publication date

19 July 2013

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American Journal of Medical Genetics

5 March 2020

published in

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volume

161A

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issue

9

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page(s)

2376-2384

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Familial cardiac valvulopathy due to filamin A mutation.

5 March 2020

cites work

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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 January 2018

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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

21 January 2018

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Atypical male and female presentations of FLNA-related periventricular nodular heterotopia

21 January 2018

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Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder

21 January 2018

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Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

21 January 2018

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Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.

21 January 2018

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A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

21 January 2018

1 reference

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Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

21 January 2018

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

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In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

21 January 2018

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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

21 January 2018

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Filamin A: phenotypic diversity

21 January 2018

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

21 January 2018

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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

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Filamin A mutation is one cause of FG syndrome.

21 January 2018

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Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

21 January 2018

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CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

21 January 2018

1 reference

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A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

21 January 2018

1 reference

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Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

21 January 2018

1 reference

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Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36109

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5 March 2020

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