hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023
Joustra Sjoerd
, Isik Emregul
, M. Wit Jan
, Catli Gonul
, Anik Ahmet
, Haliloglu Belma
, Kandemir Nurgun
, Ozsu Elif
, Hendriks Yvonne
, de Bruin Christiaan
, Kant Sarina
, Campos-Barros Angel
, Challis Rachel
, Parry David
, Harley Margaret
, Jackson Andrew
, Losekoot Monique
, van Duyvenvoorde Hermine
Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...