(Q33596773)

28 July 2017

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities (English)

1 reference

28 July 2017

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

chromosomal deletion syndrome

11 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

11 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.4.280

11 December 2022

author name string

C. P. Bennett

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

11 December 2022

D. R. Betts

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

11 December 2022

M. J. Seller

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

11 December 2022

language of work or name

English

0 references

publication date

1 April 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016834

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1856837

https://europepmc.org/articles/PMC1016834?pdf=render

11 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%3A1856837

https://syndication.highwire.org/content/doi/10.1136/jmg.28.4.280

11 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.4.280

Journal of Medical Genetics

11 December 2022

published in

1 reference

28 July 2017

28

1 reference

28 July 2017

4

1 reference

28 July 2017

280-281

1 reference

A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate

28 July 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016834

Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)

21 June 2018

1 reference

12 December 2020

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

1 reference

12 December 2020

[Bilateral anophthalmos. Facial anomalies and t(4;14) translocation]

1 reference

12 December 2020

Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.4.280

1 reference

28 July 2017

1 reference

28 July 2017

1 reference