Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases
Conference paper > Full Text · 2022
Authors: Julia Schmidt, Muhsin Özgür ÇOĞULU, Felix Boschan, Ayça AYKUT, Jennifer E. Posey, Kalyan C. Nannuru, Simon Badura, Mehmet Burak DURMAZ, Feriştah Ferda ÖZKINAY, Knut Brockmann, Gabriele Gillessen-Kaesbach, Sigmar Stricker, Aris N Economides, James R Lupski, DAVUT PEHLİVAN, Uwe Kornak
European Human Genetics Conference Hybrid Conference Vienna, Austria JUNE 11–14, 2022, American Samoa, International, Verbal, Full Text, 2022-, vol 30, pp 42-42