Article
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
The Journal of clinical endocrinology and metabolism - 15 Oct 2024
Gregorova Katerina, Plachy Lukas, Dusatkova Petra, Maratova Klara, Neuman Vit, Kolouskova Stanislava, Snajderova Marta, Obermannova Barbora, Drnkova Lenka, Soucek Ondrej, Lebl Jan, Sumnik Zdenek, Pruhova Stepanka
Abstract excerpt
CONTEXT: Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype. OBJECTIVE: To elucidate the genetic etiology in families with FTS and to describe their phenotype in detail. METHODS: Children with FTS (the life-maximum height in both the...
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