Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmi...
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
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Author / Creator
Lahrouchi, Najim , George, Aman , Ratbi, Ilham , Schneider, Ronen , Elalaoui, Siham C. , Moosa, Shahida , Bharti, Sanita , Sharma, Ruchi , Abu-Asab, Mones , Onojafe, Felix , Adadi, Najlae , Lodder, Elisabeth M. , Laarabi, Fatima-Zahra , Lamsyah, Yassine , Elorch, Hamza , Chebbar, Imane , Postma, Alex V. , Lougaris, Vassilios , Plebani, Alessandro , Altmueller, Janine , Kyrieleis, Henriette , Meiner, Vardiella , McNeill, Helen , Bharti, Kapil , Lyonnet, Stanislas , Wollnik, Bernd , Henrion-Caude, Alexandra , Berraho, Amina , Hildebrandt, Friedhelm , Bezzina, Connie R. , Brooks, Brian P. and Sefiani, Abdelaziz
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in
FAT1
. We show that
Fat1
knockout mice and...
Alternative Titles
Full title
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Authors, Artists and Contributors
Author / Creator
George, Aman
Ratbi, Ilham
Schneider, Ronen
Elalaoui, Siham C.
Moosa, Shahida
Bharti, Sanita
Sharma, Ruchi
Abu-Asab, Mones
Onojafe, Felix
Adadi, Najlae
Lodder, Elisabeth M.
Laarabi, Fatima-Zahra
Lamsyah, Yassine
Elorch, Hamza
Chebbar, Imane
Postma, Alex V.
Lougaris, Vassilios
Plebani, Alessandro
Altmueller, Janine
Kyrieleis, Henriette
Meiner, Vardiella
McNeill, Helen
Bharti, Kapil
Lyonnet, Stanislas
Wollnik, Bernd
Henrion-Caude, Alexandra
Berraho, Amina
Hildebrandt, Friedhelm
Bezzina, Connie R.
Brooks, Brian P.
Sefiani, Abdelaziz
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_545b350bd5bd4581abda47c5716aaca3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_545b350bd5bd4581abda47c5716aaca3
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-08547-w
