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. 2021 Dec 16;59(10):957–964. doi: 10.1136/jmedgenet-2021-108061

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Overview of the subjects, their phenotype and health problems. Family 1: (A) pedigree, (C–E) S1 at the age of 16 years, (F, G) S2 at the age of 14 years. Family 2: (B) pedigree. S1–S2 show mild coarse facial features, midface retrusion, full lips (C, F), short-trunk short stature (D, F, G), (relative) macrocephaly (D, F, G), short neck (E, G) and genua valga (F). Hands are shaped normally (H, I). Onset of symptoms in S1 and S2 is depicted in the timeline, age in years (J). MPS, mucopolysaccharidoses; S1–S4, subjects 1–4; WT, wild type. M1=mutation in family 1; M2=mutation in family 2.