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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Vydáno v:Am J Med Genet A
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup: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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