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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cancers (Basel)
Prif Awduron: Plamper, Michaela, Gohlke, Bettina, Schreiner, Felix, Woelfle, Joachim
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679020/
https://ncbi.nlm.nih.gov/pubmed/31336731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers11070975
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