Genetic testing of children with familial tall stature: is it worth doing?
Katerina GregorovaLukas PlachyPetra DusatkovaKlara MaratovaVit NeumanStanislava KolouskovaMarta SnajderovaBarbora ObermannovaLenka DrnkovaOndrej SoucekJan LeblZdenek SumnikStepanka PruhovaPublished in: The Journal of clinical endocrinology and metabolism (2024)
Monogenic (and cytogenetic) etiology of FTS can be found among children with FTS. Genetic examination should be considered in all children with FTS regardless of the presence of dysmorphic features.