(Q33596866)

28 July 2017

title

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.28.5.345

28 July 2017

0 references

spinal muscular atrophy

1 reference

1 reference

1 reference

1 reference

13 December 2022

author name string

Z. Borochowitz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865475

13 December 2022

B. Glick

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865475

13 December 2022

S. Blazer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865475

13 December 2022

language of work or name

English

0 references

publication date

1 May 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016857

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865475

https://europepmc.org/articles/PMC1016857?pdf=render

13 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865475

https://syndication.highwire.org/content/doi/10.1136/jmg.28.5.345

13 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.5.345

Journal of Medical Genetics

13 December 2022

published in

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28 July 2017

volume

28

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28 July 2017

issue

5

1 reference

28 July 2017

page(s)

345-348

1 reference

Arthrogryposis multiplex due to congenital muscular dystrophy

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

The nosology of the spinal muscular atrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

X-linked infantile spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

International collaborative study of the spinal muscular atrophies. Part 2. Analysis of genetic data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

Three distinct types of X-linked arthrogryposis seen in 6 families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016857

PSEUDOMYOPATHIC SPINAL MUSCULAR ATROPHY. HEREDITARY NEUROGENIC PROXIMAL AMYOTROPHY OF KUGELBERG AND WELANDER

30 October 2018

1 reference

12 December 2020

Congenital muscular dystrophy. A case report with autopsyfindings

1 reference

12 December 2020

[Anatomical study of a case of congenital and familial multiple arthrogryposis]

1 reference

12 December 2020

Arthrogryposis multiplex congenita with Pierre-Robin syndrome

1 reference

12 December 2020

A case of arthrogryposis multiplex congenita anatomically appearing as a foetal spinal muscular atrophy

https://api.crossref.org/works/10.1136/JMG.28.5.345

5

1 reference

13 December 2022

Identifiers

DOI

10.1136/JMG.28.5.345

1 reference

28 July 2017

1 reference

28 July 2017

1 reference