Potocki-Lupski Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_473-1
Reference13 articles.
1. Asadi S (2020) The role of mutation duplication chromosome 17p11.2, in Potocki-Lupski syndrome. Curr Med Res Opin 3:439–442. https://doi.org/10.15520/jcmro.v3i04.272
2. Brown A et al (1996) Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Am J Med Genet 63(2):373–377. https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2
3. Fragoso Y et al (2014) Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioral disorders. Brain Struct Funct 220:1195–1203. https://doi.org/10.1007/s00429-014-0712-1
4. Franciskovich R et al (2020) Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: expanding the phenotype of PTLS. Am J Med Genet A 182(A):2077–2084. https://doi.org/10.1002/ajmg.a.61741
5. https://ptlsfoundation.org
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