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Pathogenic Variants in USP7 Cause a Neurodevelopmental Disorder with Speech Delays, Altered Behavior, and Neurologic Anomalies

Michael D. Fountain, David S. Oleson,Megan E. Rech,Lara Segebrecht,Jill V. Hunter, John M. McCarthy,Philip J. Lupo,Manuel Holtgrewe,Rocio Moran,Jill A. Rosenfeld,Bertrand Isidor,Cédric Le Caignec,Margarita S. Saenz,Robert C. Pedersen,Thomas M. Morgan,Jean P. Pfotenhauer,Fan Xia,Weimin Bi,Sung-Hae L. Kang,Ankita Patel,Ian D. Krantz,Sarah E. Raible,Wendy Smith,Ingrid Cristian,Erin Torti,Jane Juusola,Francisca Millan,Ingrid M. Wentzensen,Richard E. Person,Sébastien Küry,Stéphane Bézieau,Kévin Uguen,Claude Férec,Arnold Munnich,Mieke van Haelst,Klaske D. Lichtenbelt,Koen van Gassen,Tanner Hagelstrom,Aditi Chawla,Denise L. Perry,Ryan J. Taft,Marilyn Jones,Diane Masser-Frye,David Dyment,Sunita Venkateswaran,Chumei Li,Luis F. Escobar,Denise Horn,Rebecca C. Spillmann,Loren Peña,Jolanta Wierzba,Tim M. Strom,Ilaria Parenti,Frank J. Kaiser,Nadja Ehmke,Christian P. Schaaf

Genetics in Medicine（2019）

Cited 43|Views48
Key words
USP7,neurodevelopment,speech delay,white matter paucity,corpus callosum thinning
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