Homozygous frameshift mutations in FAT1 cause a syndrome...

Nature Communications 2019 / 12 Vol. 10; Iss. 1

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

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.,
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Volume:
10
Language:
english
Journal:
Nature Communications
DOI:
10.1038/s41467-019-08547-w
Date:
December, 2019
File:
PDF, 2.33 MB
english, 2019
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