(Q21202894)

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Sheldon-Hall syndrome

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scholarly article

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2 references

13 March 2019

27 June 2019

Sheldon-Hall syndrome (English)

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1 reference

multiple abnormalities

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Reha M. Toydemir

object named as

Reha M Toydemir

1

author given names

Reha M

author last names

Toydemir

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Dimensions Publication ID

18 August 2022

author name string

Michael J Bamshad

2

author given names

Michael J

author last names

Bamshad

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

23 March 2009

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13 March 2019

27 June 2019

Orphanet Journal of Rare Diseases

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13 March 2019

27 June 2019

4

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1

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11

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

13 March 2019

Europe PubMed Central

27 June 2019

copyright status

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on focus list of Wikimedia project

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Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

Clinical characteristics and natural history of Freeman-Sheldon syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

A revised and extended classification of the distal arthrogryposes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

19 March 2017

Cranio-carpo-tarsal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2663550

29 November 2018

Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B

1 reference

https://pubmed.ncbi.nlm.nih.gov/19309503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

1 reference

https://pubmed.ncbi.nlm.nih.gov/19309503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-4-11

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