PMC Articles for MedGen (Select 897005) - PMC

Select item 100864741.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato

J Med Genet. 2023 Apr; 60(4): 359–367. Published online 2022 Sep 16. doi: 10.1136/jmg-2022-108602

PMCID:: PMC10086474

Abstract Article PDF–3.2M

Select item 82061562.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie-Laure Vuillaume, Sophie Blesson, Rose-Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hancarova, Sarka Bendova, Zdenek Sedlacek, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina M. England, Séverine Audebert-Bellanger, Dominique Bonneau, Estelle Colin, Anne-Sophie Denommé-Pichon, Brigitte Gilbert-Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

Am J Hum Genet. 2021 May 6; 108(5): 951–961. Published online 2021 Apr 23. doi: 10.1016/j.ajhg.2021.04.004

PMCID:: PMC8206156

Abstract Article PDF–1.5M

Select item 75689973.

CCDC22基因变异导致Ritscher-Schinzel综合征1例

梁燕婷, 江蕙芸, 付华钰

Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1135–1137. Chinese. doi: 10.7499/j.issn.1008-8830.2005168

PMCID:: PMC7568997

Abstract Article PDF–1.6M

Select item 44026164.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

Eur J Hum Genet. 2015 May; 23(5): 633–638. Published online 2014 Jun 11. doi: 10.1038/ejhg.2014.109

Correction in:: Eur J Hum Genet. 2015 May; 23(5): 720.

PMCID:: PMC4402616

Abstract Article PDF–1.5M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity