Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases
Bildiriler > Tam Metin Bildiri · 2022
Yazarlar: 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, Amerikan Samoası, Uluslararası, Sözlü Sunum, Tam Metin Bildiri, 2022-, cilt 30, ss 42-42