Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.
Guardado en:
Autores principales: | Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2019
|
Materias: | |
Acceso en línea: | https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Two Rare Syndromic Syndactyly Cases in Neonates
por: Pooja Prabhakar Kamath
Publicado: (2021) -
Predictive Factors of Keloid Formation in Congenital Foot Syndactyly
por: Sang Ho Oh, MD, et al.
Publicado: (2021) -
A templatic approach to gemination in the imperfective of Tashlhiyt Berber.pdf
por: Mohamed Lahrouchi
Publicado: (2008) -
Taxonomic Studies on the Ant Genus Strumigenys Smith, 1860 (Hymenoptera, Formicidae) with Report of Two New Species and Five New Records Including a Tramp Species from India
por: Himender Bharti, et al.
Publicado: (2014) -
Characterization of a Novel Hypotrich Ciliate From Heavy Metal-Contaminated Industrial Outlet in Onsan, Ulsan, South Korea
por: Santosh Kumar, et al.
Publicado: (2021)