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Quoted phrase not found in phrase index: "Seckel syndrome 6"
Page 1
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
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 …
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