✦ LIBER ✦
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
✍ Scribed by Platzer, Konrad; Hüning, Irina; Obieglo, Carolin; Schwarzmayr, Thomas; Gabriel, Rainer; Strom, Tim M.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
- Book ID
- 127083476
- Publisher
- John Wiley and Sons
- Year
- 2014
- Tongue
- English
- Weight
- 201 KB
- Volume
- 164
- Category
- Article
- ISSN
- 1552-4825
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