Delayed diagnosis of cervical myelopathy in an adult with Weaver syndrome.

Autor: Yao, Yvette Ysabel, Manocha, Ranita Harpreet Kaur

Publikováno v: PM & R: Journal of Injury, Function & Rehabilitation; Oct2024, Vol. 16 Issue 10, p1162-1164, 3p

Delayed diagnosis of cervical myelopathy in an adult with Weaver syndrome.

Autor: Yao YY; Cumming School of Medicine, University of Calgary, Calgary, Canada., Manocha RHK; Cumming School of Medicine, University of Calgary, Calgary, Canada.; Division of Physical Medicine & Rehabilitation, University of Calgary, Calgary, Alberta, Canada.; McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.

Publikováno v: PM & R : the journal of injury, function, and rehabilitation [PM R] 2024 Oct; Vol. 16 (10), pp. 1162-1164. Date of Electronic Publication: 2024 Mar 26.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.

Autor: Kendir-Demirkol Y; Department of Pediatric Genetics, Health Science University, Ümraniye Education and Research Hospital, Istanbul, Turkey., Yeter B; Department of Pediatric Genetics, Health Science University, Ümraniye Education and Research Hospital, Istanbul, Turkey., Jenny LA; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Mar; Vol. 15 (2), pp. 161-166. Date of Electronic Publication: 2023 Sep 28.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.