(Q33679624)

28 July 2017

title

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia (English)

1 reference

severe combined immunodeficiency

28 July 2017

main subject

1 reference

6

Rimoin DL

1 reference

28 July 2017

5

Lachman RS

1 reference

28 July 2017

author name string

Castriota-Scanderbeg A

1

1 reference

28 July 2017

Mingarelli R

2

1 reference

28 July 2017

Caramia G

3

1 reference

28 July 2017

Osimani P

4

1 reference

28 July 2017

Wilcox WR

7

1 reference

28 July 2017

Dallapiccola B

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

854-856

1 reference

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

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=1051096

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

Familial Reticuloendotheliosis with Eosinophilia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051096

Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome

30 October 2018

1 reference

12 December 2020

Antibody-mediated immunodeficiency in short-limbed dwarfism

1 reference

12 December 2020

Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia

1 reference

12 December 2020

Omenn phenotype with short-limbed dwarfism

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.10.854

1 reference

28 July 2017

1 reference

28 July 2017

1 reference