Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encodi...

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Detalles Bibliográficos
Autores principales: Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469107/
https://www.ncbi.nlm.nih.gov/pubmed/26082802
http://dx.doi.org/10.1186/s13039-015-0149-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469107/
https://www.ncbi.nlm.nih.gov/pubmed/26082802
http://dx.doi.org/10.1186/s13039-015-0149-0

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