12929_2018_481_MOESM1_ESM.docx (15.16 kB)
Additional file 1: of Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
journal contribution
posted on 2018-11-17, 05:00 authored by Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Khor, Jia Foo, Mariam AneesTable S1. Clinical findings in the nine affected family members with a homozygous WNT1 mutation. The “+” signs indicates the presence and severity of the symptom and “-” sign indicating the absence of the symptom. (DOCX 15 kb)