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2018 | 1 |
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Expanding the phenome and variome of skeletal dysplasia.
Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.
Genet Med. 2018.
PMID: 29620724
Free article.
We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the aut …
We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like …
A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
Yokoo N, et al.
Am J Med Genet A. 2013 Sep;161A(9):2291-3. doi: 10.1002/ajmg.a.35861. Epub 2013 Jul 19.
Am J Med Genet A. 2013.
PMID: 23873869
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988]. In ad …
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, …
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