(Q86097233)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B (English)

1 reference

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23 February 2020

main subject

distal arthrogryposis

1 reference

Anita E Beck

1

1 reference

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23 February 2020

Margaret J McMillin

2

1 reference

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23 February 2020

Heidi I S Gildersleeve

3

1 reference

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23 February 2020

Phillip R Kezele

4

1 reference

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23 February 2020

Kathryn M Shively

5

1 reference

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23 February 2020

John C Carey

6

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23 February 2020

Michael Regnier

7

1 reference

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23 February 2020

Michael J Bamshad

8

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23 February 2020

publication date

7 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401156%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

23 February 2020

published in

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23 February 2020

volume

161A

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23 February 2020

issue

3

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23 February 2020

page(s)

550-555

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Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

23 February 2020

cites work

1 reference

12 December 2020

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

1 reference

12 December 2020

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

1 reference

12 December 2020

A revised and extended classification of the distal arthrogryposes

1 reference

12 December 2020

Distal arthrogryposis type 1: clinical analysis of a large kindred

1 reference

12 December 2020

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

1 reference

12 December 2020

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

1 reference

12 December 2020

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

1 reference

12 December 2020

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

1 reference

12 December 2020

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

1 reference

12 December 2020

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

1 reference

12 December 2020

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

1 reference

12 December 2020

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

1 reference

12 December 2020

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus

1 reference

12 December 2020

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35809

1 reference

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23 February 2020

1 reference

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23 February 2020

PubMed publication ID

23401156

1 reference