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 · 2021

Yazarlar: Julia Schmidt, Muhsin Özgür ÇOĞULU, Felix Boschann, Ayça AYKUT, Jennifer E. Posey, Kalyan C. Nannuru, Simon Badura, Mehmet Burak DURMAZ, Feriştah Ferda ÖZKINAY, Knut Brockmann, Gabriele Gillessen-Kaesbach, Sigmar Stricke, Aris N. Economides, James R. Lupski, DAVUT PEHLİVAN, Uwe Kornak

EUROPEAN SOCIETY OF HUMAN GENETICS, Cezayir, Uluslararası, Sözlü Sunum, Tam Metin Bildiri, 2021-

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