(Q45412114)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Mutations in ALDH1A3 cause microphthalmia (English)

1 reference

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29 February 2020

1

1 reference

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29 February 2020

Hadia Hijazi

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Fowzan S Alkuraya

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

A O Khan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

27 May 2013

1 reference

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29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

84

1 reference

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29 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

128-131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23646827%20AND%20SRC:MED&resulttype=core&format=json

Anophthalmia and microphthalmia

29 February 2020

cites work

1 reference

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

21 January 2018

1 reference

Eye development genes and known syndromes

21 January 2018

1 reference

The genetics of anophthalmia and microphthalmia

21 January 2018

1 reference

Homozygous null mutation in ODZ3 causes microphthalmia in humans

21 January 2018

1 reference

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

21 January 2018

1 reference

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

21 January 2018

1 reference

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

21 January 2018

1 reference

SMOC1 is essential for ocular and limb development in humans and mice

21 January 2018

1 reference

Characterization of retinaldehyde dehydrogenase 3

21 January 2018

1 reference

Keeping an eye on retinoic acid signaling during eye development

21 January 2018

1 reference

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

21 January 2018

1 reference