Article
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
European journal of human genetics : EJHG - 1 May 2016
Koolen David A, Pfundt Rolph, Linda Katrin, Beunders Gea, Veenstra-Knol Hermine E, Conta Jessie H, Fortuna Ana Maria, Gillessen-Kaesbach Gabriele, Dugan Sarah, Halbach Sara, Abdul-Rahman Omar A, Winesett Heather M, Chung Wendy K, Dalton Marguerite, Dimova Petia S, Mattina Teresa, Prescott Katrina, Zhang Hui Z, Saal Howard M, Hehir-Kwa Jayne Y, Willemsen Marjolein H, Ockeloen Charlotte W, Jongmans Marjolijn C, Van der Aa Nathalie, Failla Pinella, Barone Concetta, Avola Emanuela, Brooks Alice S, Kant Sarina G, Gerkes Erica H, Firth Helen V, Õunap Katrin, Bird Lynne M, Masser-Frye Diane, Friedman Jennifer R, Sokunbi Modupe A, Dixit Abhijit, Splitt Miranda, Kukolich Mary K, McGaughran Julie, Coe Bradley P, Flórez Jesús, Nadif Kasri Nael, Brunner Han G, Thompson Elizabeth M, Gecz Jozef, Romano Corrado, Eichler Evan E, de Vries Bert B A
Abstract excerpt
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features...
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