(Q52223065)

27 April 2018

title

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. (English)

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27 April 2018

author name string

Motzkin B

1

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27 April 2018

Marion R

2

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27 April 2018

Goldberg R

3

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27 April 2018

Shprintzen R

4

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27 April 2018

Saenger P

5

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27 April 2018

language of work or name

English

0 references

publication date

1 September 1993

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27 April 2018

The Journal of Pediatrics

published in

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27 April 2018

volume

123

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27 April 2018

issue

3

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27 April 2018

page(s)

406-410

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27 April 2018

Cardiac malformations in the velocardiofacial syndrome

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Prader-Willi syndrome: current understanding of cause and diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

The spectrum of the DiGeorge syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Additional eye findings in a girl with the velo-cardio-facial syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

Velo-cardio-facial syndrome: a review of 120 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981740-8

10.1016/S0022-3476(05)81740-8

7 January 2021

Identifiers

DOI

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27 April 2018

1 reference

27 April 2018