La sindrome di Treacher Collins-Reference-Cited by-同舟云学术

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La sindrome di Treacher Collins

Published:2024-09-06 Issue:7 Volume:43 Page:458-459
ISSN:1591-3090
Container-title:Medico e Bambino
language:
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Author:

Apuril Erika¹,Mariani Milena²,Selicorni Angelo²

Affiliation:

1. Scuola di Specializzazione in Genetica Medica, Università di Milano

2. UOC di Pediatria, Centro Fondazione Mariani per il Bambino Fragile, ASST Lariana, Como

Abstract

Un’ipoplasia del viso con grandissima variabilità, che ritardo di sviluppo solitamente non dà

Publisher

Medico e Bambino

Reference6 articles.

1. Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2020 Aug 20]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1532/.

2. Treacher Collins Syndrome: Genetics, Clinical Features and Management

3. Treacher Collins Syndrome

4. Treacher Collins syndrome: current evaluation, treatment, and future directions;Posnick JC;Cleft Palate Craniofac J,2000

5. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

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