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Quoted phrase not found in phrase index: "Short stature with microcephaly and distinctive facies"
Page 1
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
BMC Med Genomics. 2020 Dec 4;13(1):181. doi: 10.1186/s12920-020-00831-9.
BMC Med Genomics. 2020.
PMID: 33276791
Free PMC article.
CONCLUSIONS: Here we reported the first familial NSD2 variant and the long-term effect of growth hormone therapy for patients. Our results suggested NSD2 mutation might cause a distinct intellectual disability and short stature syndrome....
CONCLUSIONS: Here we reported the first familial NSD2 variant and the long-term effect of growth hormone therapy for patients. Our results s …
ATR promotes cilia signalling: links to developmental impacts.
Stiff T, Casar Tena T, O'Driscoll M, Jeggo PA, Philipp M.
Stiff T, et al.
Hum Mol Genet. 2016 Apr 15;25(8):1574-87. doi: 10.1093/hmg/ddw034. Epub 2016 Feb 11.
Hum Mol Genet. 2016.
PMID: 26908596
Free PMC article.
Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. Hitherto, the clinical manifestation of ATR deficiency has been attributed to its canonical role in DNA damage response signalling …
Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder …
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