Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder
caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over …

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an
excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. …

Individualisation of the therapeutic strategy for the oral antifungal agent voriconazole (VCZ)
is extremely important for treatment optimisation. To date, regulatory agencies include …

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We
aim to delineate the entity by studying a large group of affected individuals. We gathered …

The triple-negative breast cancer (TNBC) subtype comprises approximately 15% of all breast
cancers and is associated with poor long-term outcomes. Classical chemotherapy remains …

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome
caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA …

In 2014, we established a pharmacogenetics unit with the intention of facilitating the integration
of pharmacogenetic testing into clinical practice. This unit was centered around two main …

Metabolic reprogramming is a hallmark of cancer. It has been described that breast cancer
subtypes present metabolism differences and this fact enables the possibility of using …

The proximal 19p13.3 microdeletion/microduplication (prox19p13.3del/dup) syndrome is a
recently described disorder with common clinical features including developmental delay, …

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main
characteristic is that either the weight, height, or head circumference are above the 97th …