Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children

PTEN hamartoma tumor syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is a diagnostic feature, but there is a paucity of d...

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Detalles Bibliográficos
Autores principales: Plamper, Michaela, Gohlke, Bettina, Schreiner, Felix, Woelfle, Joachim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679020/
https://www.ncbi.nlm.nih.gov/pubmed/31336731
http://dx.doi.org/10.3390/cancers11070975

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679020/
https://www.ncbi.nlm.nih.gov/pubmed/31336731
http://dx.doi.org/10.3390/cancers11070975

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