Fig. 3. Family pedigree and Sanger sequencing. Sanger sequencing in the two siblings (II.1, II.2) showing the homozygous c.2746-2A>G variants in SNX14 and a heterozygous variant in the mother (I.2) and father (I.1).

Journal of Genetic Medicine 2021;18:127-31 https://doi.org/10.5734/JGM.2021.18.2.127

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