Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been report...

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Detalles Bibliográficos
Autores principales: Shelby, Elena-Silvia, Morris, Michael, Pădure, Liliana, Mirea, Andrada, Cocoș, Relu, Cărămizaru, Alexandru, Șerban-Sosoi, Simona, Pîrvu, Andrei, Streață, Ioana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872157/
https://www.ncbi.nlm.nih.gov/pubmed/35205257
http://dx.doi.org/10.3390/genes13020212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872157/
https://www.ncbi.nlm.nih.gov/pubmed/35205257
http://dx.doi.org/10.3390/genes13020212

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