Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.

Autor: Hatch HAM; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA., O'Neil MH; Rose F. Kennedy Children's Evaluation and Rehabilitation Center, The Children's Hospital at Montefiore, Bronx, New York, USA., Marion RW; Division of Genetic Medicine, The Children's Hospital at Montefiore, Bronx, New York, USA., Secombe J; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Shulman LH; Rose F. Kennedy Children's Evaluation and Rehabilitation Center, The Children's Hospital at Montefiore, Bronx, New York, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 2951-2958. Date of Electronic Publication: 2021 Jun 04.