Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene (Q24620559)

10

Lina Basel-Vanagaite

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Stephen Robertson

Stephen P Robertson

7

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Hanka Venselaar

Hanka Venselaar

6

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Yu Sun

Yu Sun

1

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author name string

Rowida Almomani

2

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Emmelien Aten

3

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Jacopo Celli

4

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Jaap van der Heijden

5

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Anna Baroncini

8

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Emiko Horii

11

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Ricardo Drut

12

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Yavuz Ariyurek

13

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Johan T den Dunnen

14

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Martijn H Breuning

American Journal of Human Genetics

15

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language of work or name

English

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publication date

9 July 2010

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published in

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volume

87

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issue

1

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page(s)

146-53

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Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome

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Interaction of the calcium-sensing receptor and filamin, a potential scaffolding protein

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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome

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28 November 2018

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28 November 2018

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28 November 2018

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12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

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12 December 2020

FAP52 regulates actin organization via binding to filamin

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12 December 2020

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

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12 December 2020

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria

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12 December 2020

A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation

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12 December 2020

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

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12 December 2020

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

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12 December 2020