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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Milani D, et al. Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Ital J Pediatr. 2015. PMID: 25599811 Free PMC article. Review.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, in …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated preval …
[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S. Demily C, et al. Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16. Encephale. 2015. PMID: 25523123 Review. French.
INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several presentations including Di George's syndrome, velo-cardio-facial syndrome or Shprintzen's syndrome and it is the most frequent microdeletion synd …
INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several prese …
[Familial congenital aniridia].
Zolog I, Belengeanu V, Marinca S, Soim A. Zolog I, et al. Oftalmologia. 1997;41(4):326-8. Oftalmologia. 1997. PMID: 9409985 Review. Romanian.
Aniridia can be found either as a "de novo" mutation in a family or as a continuous transmission between generations reproducing the dominant autosomal model. The ocular manifestations of this anomaly include: defects of the cornea, glaucoma, lens subluxations, hypo …
Aniridia can be found either as a "de novo" mutation in a family or as a continuous transmission between generations reproducing the domi …