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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Abstract:

We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with auto...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2014.05.005

Authors


Rainger, J More by this author
Pehlivan, D More by this author
Johansson, S More by this author
Bengani, H More by this author
Sanchez-Pulido, L More by this author
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Journal:
American journal of human genetics
Volume:
94
Issue:
6
Pages:
915-923
Publication date:
2014-06-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:eab03d6c-7c9c-4f3e-8b4d-45325c72e621
Source identifiers:
469297
Local pid:
pubs:469297

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