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Select item 112179531.

Syndrome Coffin-Siris et anomalies bucco-dentaires : une nouvelle observation

Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour

Tunis Med. 2023 Apr; 101(4): 456–459. French. Publication en ligne 2023 avr. 5.

PMCID:: PMC11217953

Abstract Article PDF–546K

Select item 111793642.

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction

Diksha Shirodkar, Sarah Francesca Smithson, Richard Keen, Tracy Lester, Benito Banos-Pinero, Christine Pamela Burren

BMC Med Genomics. 2024; 17: 160. Published online 2024 Jun 15. doi: 10.1186/s12920-024-01931-6

PMCID:: PMC11179364

Abstract Article PDF–1.7M

Select item 111294763.

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen, James C. Padussis

BMC Med Genomics. 2024; 17: 144. Published online 2024 May 27. doi: 10.1186/s12920-024-01913-8

PMCID:: PMC11129476

Abstract Article PDF–1.5M

Select item 110713294.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu

BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y

PMCID:: PMC11071329

Abstract Article PDF–1.6M

Select item 109581695.

Novel homozygous mutations in TXNDC15 causing Meckel syndrome

Tianqin Deng, Yuli Xie

Mol Genet Genomic Med. 2024 Mar; 12(3): e2343. Published online 2023 Dec 29. doi: 10.1002/mgg3.2343

PMCID:: PMC10958169

Abstract Article PDF–835K

Select item 109303506.

Börjeson-Forssman-Lehmann综合征1例

潘兰桂, 尹飞, 陈施梦, 熊娟, 何芳, 彭镜

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Feb 28; 48(2): 294–301. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220414

PMCID:: PMC10930350

Abstract Article PDF–2.7M

Select item 109255187.

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva

Longqing Li, Minxun Lu, Xuanhong He, Chang Zou, Chuanxi Zheng, Yitian Wang, Fan Tang, Yi Luo, Yong Zhou, Li Min, Chongqi Tu

Orthop Surg. 2024 Mar; 16(3): 781–787. Published online 2024 Jan 7. doi: 10.1111/os.13956

PMCID:: PMC10925518

Abstract Article PDF–1.3M

Select item 109107708.

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia

BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w

PMCID:: PMC10910770

Abstract Article PDF–1.5M

Select item 109066949.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Abstract Article PDF–406K

Select item 1087578710.

Polyhydramnios associated with rare genetic syndromes: two case reports

C. W. C. Lim, I. E. Lustestica, W. B. Poon, W. C. Tan

J Med Case Rep. 2024; 18: 97. Published online 2024 Feb 19. doi: 10.1186/s13256-024-04435-0

PMCID:: PMC10875787

Abstract Article PDF–1.1M

Select item 1078467911.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang

eBioMedicine. 2024 Jan; 99: 104940. Published online 2023 Dec 27. doi: 10.1016/j.ebiom.2023.104940

PMCID:: PMC10784679

Abstract Article PDF–1.9M

Select item 1076761212.

A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review

Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319

PMCID:: PMC10767612

Abstract Article PDF–2.0M

Select item 1075460913.

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

Yu Shi, Qihong Lei, Qing Han

Medicine (Baltimore) 2023 Dec 29; 102(52): e36271. Published online 2023 Dec 29. doi: 10.1097/MD.0000000000036271

PMCID:: PMC10754609

Abstract Article PDF–744K

Select item 1072450814.

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271

PMCID:: PMC10724508

Abstract Article PDF–1.7M

Select item 1072449615.

Clinical heterogeneity of polish patients with KAT6B–related disorder

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265

PMCID:: PMC10724496

Abstract Article PDF–943K

Select item 1056720916.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660

PMCID:: PMC10567209

Abstract Article PDF–1.3M

Select item 1045107217.

H syndrome treated with Tocilizumab: two case reports and literature review

Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve

Front Immunol. 2023; 14: 1061182. Published online 2023 Aug 11. doi: 10.3389/fimmu.2023.1061182

PMCID:: PMC10451072

Abstract Article PDF–5.2M

Select item 1040450418.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom

An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009

PMCID:: PMC10404504

Abstract Article PDF–2.3M

Select item 1029843319.

Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

Anna Douka, Lambros Goutzanis, Dimitrios Vlachakis, George P. Chrousos, Christos Yapijakis

Genes (Basel) 2023 Jun; 14(6): 1246. Published online 2023 Jun 10. doi: 10.3390/genes14061246

PMCID:: PMC10298433

Abstract Article PDF–2.9M

Select item 1023516520.

Developmental and epileptic encephalopathy 89: A novel bi‐allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile

Erfan Khorram, Masoomeh Amini, Mehdi Khorrami

Epilepsia Open. 2023 Jun; 8(2): 571–585. Published online 2023 Apr 17. doi: 10.1002/epi4.12739

PMCID:: PMC10235165

Abstract Article PDF–12M

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