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Table 1 Clinical and demographic features of the patients with pycnodysostosis summarized according to mutations

From: Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

Pt ID City of Origin Centers Age (F/M) Open Ant. Fontanel Acroosteolysis Fractures (n)- age (yr)* Height SDS
M1I-(3G- > A)- Exon 2
1-I Ordu Istanbul 2.7 (F) Yes Yes Cranium (1)-2.3 -3.01
1-II   6.5 (F) No Yes Femur (2)-5.4 -2.36
L7P- (20 T - > C)-Exon2
2 Ankara Ankara 32 (M) No Yes Femur (2), tibia (1) -4.3
3 Ankara Ankara 10 (M) Yes Yes Tibia (1) -3.9
4 Çorum Istanbul 11 (F) No Yes Tibia (1)-9.7 -4.8
5 Samsun Ankara 19 (M) Yes Yes Tarsal (1)-14 -3.8
D80Y-(238G- > T)-Exon 3
6 Kastamonu Istanbul 10.5 (F) No Yes Yes**-10.5 -2.31
D169N-(505G- > A)-Exon 5
7 Erzincan Erzurum 5 (M) Yes Yes No -2.2
I249T-(746 T- > C)-Exon 6
8 Sivas Istanbul 6 (F) No No No -2.6
9 Yozgat Ankara 12 (M) Yes Yes Tibia (3), clavicle (1), scapula (1)-6 -3.6
R312X-(934C- > T)- Exon 8
10 Yozgat Ankara 14 (M) Yes Yes No -4.4
11 Corum Ankara 8 (F) Yes Yes No -5.2
12 Erzincan İstanbul 9.8 (M) No Yes Tibia (3)-5 -2.12
N296fX54 (IVS7-14-15insAlu: HSU18392)-Intron 7
13-II.1 Mardin Istanbul 6.5 (F) Yes Yes No -4.64
13-II.3    1 (F) Yes No No -1.77
14 Batman Ankara 16 m (F) Yes Yes No -2.0
  1. *The age given for fractures is the age the first fracture occurred in the patient. **Cervical vertebrate during operation for Arnold Chiari malformation.