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Quoted phrase not found in phrase index: "Seckel syndrome 6"
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Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M. Scalet D, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):15-20. doi: 10.1016/j.bbadis.2016.09.011. Epub 2016 Sep 14. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27639833 Free article.
The c.2101A>G synonymous change (p.G674G) in the gene for ATR, a key player in the DNA-damage response, has been the first identified genetic cause of Seckel Syndrome (SS), an orphan disease characterized by growth and mental retardation. ...Altogether these data …
The c.2101A>G synonymous change (p.G674G) in the gene for ATR, a key player in the DNA-damage response, has been the first identified gen …
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L. Faienza MF, et al. J Pediatr Endocrinol Metab. 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. J Pediatr Endocrinol Metab. 2013. PMID: 23612698
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordia …
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecr …