Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2041-1723

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly ; volume:10 ; number:1 ; day:12 ; month:3 ; year:2019 ; pages:1-11 ; date:12.2019
Nature Communications ; 10, Heft 1 (12.3.2019), 1-11, 12.2019

Classification: Naturwissenschaften

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.
Sefiani, Abdelaziz

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41467-019-08547-w

URN: urn:nbn:de:101:1-2019040102023078366219

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:02 AM CEST

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Associated

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.
Sefiani, Abdelaziz
SpringerLink (Online service)

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

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Other Objects (12)

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