Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Co-occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), microcephaly, short stature, and limb abnormalities (MISSLA, OMIM 617604), and microcephalic...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Akdemir, Zeynep Coban, Bayram, Yavuz, Harms, Frederike Leonie, Meinecke, Peter, Alawi, Malik, Bacino, Carlos A., Sutton, V. Reid, Kortum, Fanny, Lupski, James. R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6936249/
https://ncbi.nlm.nih.gov/pubmed/31407851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61315
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