PMC Articles for MedGen (Select 868200) - PMC

Select item 101743471.

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report

Xiao-Hui Wu, Shuang-Zhu Lin, Zhen-Xian Liu, Yang-Fan Qi, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Lu-Lu Yang

Medicine (Baltimore) 2023 May 12; 102(19): e33744. Published online 2023 May 12. doi: 10.1097/MD.0000000000033744

PMCID:: PMC10174347

Abstract Article PDF–1.5M

Select item 81479012.

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report

Ohood Almutairi, Hessah A. Almutairi, Maysoun Al Rushood

Am J Case Rep. 2021; 22: e930966-1–e930966-7. Published online 2021 May 20. doi: 10.12659/AJCR.930966

PMCID:: PMC8147901

Abstract Article PDF–177K

Select item 75690053.

CHAMP1基因新发突变致常染色体显性智力障碍40型1例

王明梅, 朱登纳, 李三松, 张广宇, 杨磊, 赵云霞, 刘汉友

Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1131–1134. Chinese. doi: 10.7499/j.issn.1008-8830.2004163

PMCID:: PMC7569005

Abstract Article PDF–1.5M

Select item 69131464.

Three rare disease diagnoses in one patient through exome sequencing

Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L. Kemppainen, Eric W. Klee, Ralitza H. Gavrilova

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004390. doi: 10.1101/mcs.a004390

PMCID:: PMC6913146

Abstract Article PDF–1.1M

Select item 58390375.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E. Fisher, David A. Koolen

Eur J Hum Genet. 2018 Jan; 26(1): 75–84. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0035-9

PMCID:: PMC5839037

Abstract Article PDF–367K

Select item 57654016.

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano‐Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck

Am J Med Genet A. 2018 Jan; 176(1): 201–208. Published online 2017 Sep 27. doi: 10.1002/ajmg.a.38479

PMCID:: PMC5765401

Abstract Article PDF–624K

Select item 29873577.

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Amy R Frost, Sabrina V Böhm, Raj N Sewduth, Dragana Josifova, Caroline Mackie Ogilvie, Louise Izatt, Roland G Roberts

Eur J Hum Genet. 2010 Jul; 18(7): 852–855. Published online 2010 Mar 17. doi: 10.1038/ejhg.2010.28

PMCID:: PMC2987357

Abstract Article PDF–252K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity