Fig. 1From: Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving caseFamilial pedigree. Our proband (III-1) and father (II-2) have the described variant c.216Gā>āC;p.Gln72His. Probandās uncle (II-1), and two of the paternal grandmotherās sisters (I-3 & I-4) may be also affected because of short adult stature but were not evaluated clinically or molecularlyBack to article page