(Q52104595)

22 April 2018

title

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. (English)

1 reference

22 April 2018

combined immunodeficiency

main subject

1 reference

Roifman CM

1

1 reference

22 April 2018

Melamed I

series ordinal

2

1 reference

22 April 2018

publication date

1 June 2003

1 reference

22 April 2018

published in

Clinical Genetics

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22 April 2018

volume

63

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22 April 2018

issue

6

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22 April 2018

page(s)

522-529

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22 April 2018

A case of Swiss-type agammaglobulinaemia and achondroplasia

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

Schimke immuno-osseous dysplasia: case report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Noncompaction of the myocardium associated with Roifman syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Hypogonadotrophic hypogonadism in Roifman syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Cartilage hair hypoplasia: immunological aspects and their clinical implications

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Deficiency of humoral immunity in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00033.X

7 January 2021

10.1034/J.1399-0004.2003.00033.X

Identifiers

DOI

1 reference

22 April 2018

PubMed ID

12786759

1 reference

22 April 2018