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Select item 109066941.

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 107676122.

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 105672093.

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 105096694.

Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice

Koki Nagai, Tetsuya Niihori, Akihiko Muto, Yoshikazu Hayashi, Taiki Abe, Kazuhiko Igarashi, Yoko Aoki

Blood Adv. 2023 Sep 26; 7(18): 5409–5420. Published online 2023 Apr 26. doi: 10.1182/bloodadvances.2022008462

PMCID:: PMC10509669

Abstract Article PDF–2.6M

Select item 104045045.

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 101376886.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes

Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro

Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849

PMCID:: PMC10137688

Abstract Article PDF–2.5M

Select item 100099137.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103

PMCID:: PMC10009913

Abstract Article PDF–1.6M

Select item 95924728.

Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature

Sarya Swed, Abdulqadir J. Nashwan, Hiba Haj Saleh, Yamane Chawa, Alaa Baria, Aladdin Etr

Medicine (Baltimore) 2022 Oct 21; 101(42): e31237. Published online 2022 Oct 21. doi: 10.1097/MD.0000000000031237

PMCID:: PMC9592472

Abstract Article PDF–421K

Select item 95336079.

Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing

Husile Husile, Zhifeng Wu, Liqing Yang, Yaning Cao, Qizhu Wu

BMC Med Genomics. 2022; 15: 210. Published online 2022 Oct 4. doi: 10.1186/s12920-022-01360-3

PMCID:: PMC9533607

Abstract Article PDF–1.4M

Select item 909705010.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia

Ital J Pediatr. 2022; 48: 72. Published online 2022 May 12. doi: 10.1186/s13052-022-01267-w

PMCID:: PMC9097050

Abstract Article PDF–766K

Select item 900092811.

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway

Xiaofang Shen, Shun Zhang, Xin Zhang, Taifeng Zhou, Yongjun Rui

Mol Genet Genomic Med. 2022 Apr; 10(4): e1895. Published online 2022 Feb 26. doi: 10.1002/mgg3.1895

PMCID:: PMC9000928

Abstract Article PDF–1.1M

Select item 862399212.

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon

Genes (Basel) 2021 Nov; 12(11): 1674. Published online 2021 Oct 23. doi: 10.3390/genes12111674

PMCID:: PMC8623992

Abstract Article PDF–501K

Select item 833602313.

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review

Samantha S. Sáenz, Benjamin Arias, Kazuyoshi Hosomichi, Vanessa I. Romero

Hum Genomics. 2021; 15: 49. Published online 2021 Aug 4. doi: 10.1186/s40246-021-00348-x

PMCID:: PMC8336023

Abstract Article PDF–1.0M

Select item 815651114.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748

PMCID:: PMC8156511

Abstract Article PDF–2.9M

Select item 814242815.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

J Med Genet. 2021 Jun; 58(6): 362–368. Published online 2020 Jun 26. doi: 10.1136/jmedgenet-2020-106948

PMCID:: PMC8142428

Abstract Article PDF–580K

Select item 759880916.

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report

Yuki Otsuki, Koichi Ueda, Takashi Nuri, Chisei Satoh, Ryuta Maekawa, Koh-ichiro Yoshiura

Medicine (Baltimore) 2020 Oct 30; 99(44): e22816. Published online 2020 Oct 30. doi: 10.1097/MD.0000000000022816

PMCID:: PMC7598809

Abstract Article PDF–393K

Select item 757188617.

The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature

Shaoyang Lai, Xueqin Zhang, Ling Feng, Mengzhou He, Shaoshuai Wang

Medicine (Baltimore) 2020 Oct 16; 99(42): e22533. Published online 2020 Oct 16. doi: 10.1097/MD.0000000000022533

PMCID:: PMC7571886

Abstract Article PDF–639K

Select item 752385418.

A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report

Qingyang Shi, Rulin Dai, Ruixue Wang, Jili Jing, Xiaowei Yu, Ruizhi Liu, Yanhong Liu

Medicine (Baltimore) 2020 Sep 25; 99(39): e22340. Published online 2020 Sep 25. doi: 10.1097/MD.0000000000022340

PMCID:: PMC7523854

Abstract Article PDF–761K

Select item 735220019.

GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis

Lorena Di Pietro, Marta Barba, Chiara Prampolini, Sabrina Ceccariglia, Paolo Frassanito, Alessia Vita, Enrico Guadagni, Davide Bonvissuto, Luca Massimi, Gianpiero Tamburrini, Ornella Parolini, Wanda Lattanzi

Int J Mol Sci. 2020 Jun; 21(12): 4356. Published online 2020 Jun 19. doi: 10.3390/ijms21124356