U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 37

1.
TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
Shalini Dhiman, Inusha Panigrahi, Maryada Sharma, Chakshu Chaudhry, Mahak Garg
J Pediatr Genet. 2024 Dec; 13(4): 258–262. Published online 2023 Jul 28. doi: 10.1055/s-0043-1771527
PMCID:
PMC11534420
ArticlePDF–1.8M
2.
A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
Adriana Amaral Carvalho, Renato Assis Machado, Célia Márcia Fernandes Maia, Luis Antônio Nogueira dos Santos, Daniella Reis Barbosa Martelli, Ricardo Della Coletta, Hercílio Martelli, Júnior
Rev Paul Pediatr. 2024; 42: e2022189. Published online 2024 May 27. doi: 10.1590/1984-0462/2024/42/2022189
PMCID:
PMC11135898
ArticlePDF–613K
3.
Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report
Majeed H. Al Ajeli
Oman Med J. 2024 Jan; 39(1): e600. Published online 2024 Jan 31. doi: 10.5001/omj.2024.09
PMCID:
PMC10909074
ArticlePDF–282K
4.
Hallermann-Streiff Syndrome and Psychosis: A Case Report
Tarvis Peacock, Ubaid Khokhar, Jaclyn Murphy, Zach Murphy
HCA Healthc J Med. 2022; 3(1): 29–33. Published online 2022 Feb 26. doi: 10.36518/2689-0216.1311
PMCID:
PMC10324677
ArticlePDF–256K
5.
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism
Ayberk Türkyılmaz, Emine Ayça Cimbek, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel
Mol Syndromol. 2023 Feb; 14(1): 35–43. Published online 2022 Jul 6. doi: 10.1159/000525393
PMCID:
PMC9912003
ArticlePDF–716K
6.
Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome
Seoyun Jang, Yo Han Ahn, Jung Min Ko, Jae Sung Ko, Sojung Lim, Hee Gyung Kang
Front Pediatr. 2022; 10: 1032653. Published online 2022 Oct 31. doi: 10.3389/fped.2022.1032653
PMCID:
PMC9660256
ArticlePDF–1.2M
7.
A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos‐Xavier, Andrea Superti‐Furga
Am J Med Genet A. 2022 Jan; 188(1): 319–325. Published online 2021 Sep 28. doi: 10.1002/ajmg.a.62506
PMCID:
PMC9291540
ArticlePDF–1.6M
8.
Oral Facial Manifestations of Sanjad–Sakati Syndrome: A Literature Review
Sara Alghamdi
Children (Basel) 2022 Apr; 9(4): 448. Published online 2022 Mar 22. doi: 10.3390/children9040448
PMCID:
PMC9028158
ArticlePDF–929K
9.
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong‐Hee Chae, Soo Yeon Kim, Jung Min Ko
Mol Genet Genomic Med. 2021 Oct; 9(10): e1791. Published online 2021 Aug 24. doi: 10.1002/mgg3.1791
PMCID:
PMC8580098
ArticlePDF–876K
10.
Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family
Cheng Lei, Ting Guo, Shuizi Ding, Liyan Liao, Hong Peng, Zhiping Tan, Hong Luo
Mol Genet Genomic Med. 2021 Jan; 9(1): e1553. Published online 2020 Nov 20. doi: 10.1002/mgg3.1553
PMCID:
PMC7963421
ArticlePDF–799K
11.
Rare manifestations of Potter Sequence: A Case Report
Uttara Gautam, Rishikesh Kafley, Vijay Chikanbanjar, Alyssa Shakya, Rydam Basnet, Sunil Raja Manandhar
JNMA J Nepal Med Assoc. 2020 Mar; 58(223): 178–180. Published online 2020 Mar 31. doi: 10.31729/jnma.4683
PMCID:
PMC7580308
ArticlePDF–856K
12.
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
Silvia Magno, Giovanni Ceccarini, Caterina Pelosini, Federica Ferrari, Flavia Prodam, Donatella Gilio, Margherita Maffei, Maria Rita Sessa, Andrea Barison, Annamaria Ciccarone, Michele Emdin, Gianluca Aimaretti, Ferruccio Santini
J Endocr Soc. 2020 Oct 1; 4(10): bvaa108. Published online 2020 Aug 1. doi: 10.1210/jendso/bvaa108
PMCID:
PMC7474543
ArticlePDF–312K
13.
1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析
李 媛, 何 山, 朱 鸿玲
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov 25; 19(11): 1155–1158. Chinese. doi: 10.7499/j.issn.1008-8830.2017.11.006
PMCID:
PMC7389331
ArticlePDF–1018K
14.
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome
Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai
Mol Genet Genomic Med. 2020 May; 8(5): e1204. Published online 2020 Mar 11. doi: 10.1002/mgg3.1204
PMCID:
PMC7216809
ArticlePDF–859K
15.
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2
Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang
Mol Genet Genomic Med. 2019 Sep; 7(9): e843. Published online 2019 Jul 18. doi: 10.1002/mgg3.843
PMCID:
PMC6732274
ArticlePDF–423K
16.
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes
Mol Genet Genomic Med. 2019 Jun; 7(6): e656. Published online 2019 Apr 23. doi: 10.1002/mgg3.656
PMCID:
PMC6565579
ArticlePDF–569K
17.
Sanjad-Sakati Syndrome: Oral Health Care
Yazan Hassona, Lamis Rajab, Dina Taimeh, Crispian Scully
Med Princ Pract. 2018 Jul; 27(3): 293–296. Published online 2018 Mar 13. doi: 10.1159/000488352
PMCID:
PMC6062658
ArticlePDF–487K
18.
Clinical and radiographic features of pycnodysostosis: A case report
Cleomar Rodrigues, Fernando-Antônio Gomes, José-Alcides Arruda, Luciano Silva, Pâmella Álvares, Priscila da Fonte, Ana-Paula Sobral, Marcia Silveira
J Clin Exp Dent. 2017 Oct; 9(10): e1276–e1281. Published online 2017 Oct 1. doi: 10.4317/jced.54105
PMCID:
PMC5694160
ArticlePDF–2.3M
19.
IMPLANT SUPPORTED PROSTHESIS IN A PATIENT WITH PROGERIA: CASE REPORT
Gözlem Ceylan, Nergiz Yılmaz, Özgün Şenyurt, Göknil Ergün Kunt
Bosn J Basic Med Sci. 2009 Aug; 9(3): 210–214. doi: 10.17305/bjbms.2009.2808
PMCID:
PMC5632504
ArticlePDF–146K
20.
Short stature Revealing a Pycnodysostosis: A Case Report
Hayat Aynaou, Imane Skiker, Hanane Latrech
J Orthop Case Rep. 2016 Apr-Jun; 6(2): 43–45. doi: 10.13107/jocr.2250-0685.426
PMCID:
PMC5040570
ArticlePDF–1.1M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center