Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies

Capkova, P; Capkova, Z; Rohon, P; Adamova, K; Zapletalova, J

Capkova, P (corresponding author), Univ Hosp Olomouc, Dept Med Genet, Olomouc, Czech Republic.; Capkova, P (corresponding author), Palacky Univ Olomouc, Fac Med & Dent, Dept Med Genet, Olomouc, Czech Republic.

PEERJ, 2020; 8 ():

Abstract

Background. SHOX mutations have previously been described as causes of Led-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopa......

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