Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini & Daphne J. Smits & Laura Vandervore & Rachel Schot & Marta Columbaro & Esmee Kasteleijn & Mees van der Ent & Flavia Palombo & Maarten H. Lequin & Marjolein Dremmen & Marie Claire Y. de Wit & Mariasavina Severino & Maria Teresa Divizia &...