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Select item 107068871.

Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes

Enzo Di Iorio, Filippo Bonelli, Raluca Bievel-Radulescu, Nicolò Decastello, Stefano Ferrari, Vanessa Barbaro, Diego Ponzin

J Clin Med. 2023 Dec; 12(23): 7377. Published online 2023 Nov 28. doi: 10.3390/jcm12237377

PMCID:: PMC10706887

Abstract Article PDF–1.9M

Select item 104220682.

A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly

Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghiath Al‐Souqi, Hasan Albacha‐Hejazi, Joan E. Bailey‐Wilson

Mol Genet Genomic Med. 2023 Aug; 11(8): e2179. Published online 2023 Apr 18. doi: 10.1002/mgg3.2179

PMCID:: PMC10422068

Abstract Article PDF–6.2M

Select item 100956013.

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report

Mohammad Fahim Mohd Jais, Tai Wan Dien, Wen-Jeat Ang, Raja Norliza Raja Omar, Nor Fadhilah Mohamad

Cureus. 2023 Mar; 15(3): e36086. Published online 2023 Mar 13. doi: 10.7759/cureus.36086

PMCID:: PMC10095601

Abstract Article PDF–1.1M

Select item 96626884.

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei

Front Genet. 2022; 13: 1002089. Published online 2022 Oct 31. doi: 10.3389/fgene.2022.1002089

PMCID:: PMC9662688

Abstract Article PDF–1.2M

Select item 84634965.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella Pierpont, Matthew J. Schultz, Pavel N. Pichurin, Rory J. Olson, Gail E. Graham, Matthew Osmond, Gustavo A. Contreras-García, Karina A Campo-Neira, Camilo A. Peñaloza-Mantilla, Mark Flage, Srikar Kuppa, Karina Navarro, Maria J. Guillen Sacoto, Ingrid M. Wentzensen, Maria I. Scarano, Jane Juusola, Carlos E. Prada, Robert B. Hufnagel

Genet Med. Author manuscript; available in PMC 2021 Nov 26.

Published in final edited form as: Genet Med. 2021 Sep; 23(9): 1624–1635. Published online 2021 May 26. doi: 10.1038/s41436-021-01182-1

PMCID:: PMC8463496

Abstract Article PDF–2.2M

Select item 81448786.

Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia

Wafaa N. Al Rawi, Wala'a Al‐Safi, Ashraf N. Abuobayda, Nabil S. Elmansoury, Abhijeet S. Lonikar, Anas Alshorman, Hasansaheb D. Maldar

Clin Case Rep. 2021 May; 9(5): e04264. Published online 2021 May 25. doi: 10.1002/ccr3.4264

PMCID:: PMC8144878

Abstract Article PDF–941K

Select item 75988097.

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 71578588.

Surgical Ectrodactyly Repair Using Limb-lengthening and Bone Tissue Engineering Techniques in a Toy Dog Breed

MUN-IK LEE, HO-HYUN KWAK, JUN-HYUNG KIM, HYEOK-SOO SHIN, HEUNG-MYONG WOO, BYUNG-JAE KANG

In Vivo. 2020 Mar-Apr; 34(2): 815–824. Published online 2020 Mar 3. doi: 10.21873/invivo.11843

PMCID:: PMC7157858

Abstract Article PDF–538K

Select item 71254979.

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

Anamika Bharati, Saumya Navit, Suleman Abbas Khan, Seema Jabeen, Nishi Grover, Meenakshi Upadhyay

Case Rep Dent. 2020; 2020: 8418725. Published online 2020 Mar 23. doi: 10.1155/2020/8418725

PMCID:: PMC7125497

Abstract Article PDF–1.1M

Select item 602837010.

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Kikue Terada Abe, Isabela M. P. O. Rizzo, Ana L. V. Coelho, Nilo Sakai, Jr, Daniel R. Carvalho, Carlos E. Speck‐Martins

Clin Case Rep. 2018 Jul; 6(7): 1300–1307. Published online 2018 May 28. doi: 10.1002/ccr3.1600

PMCID:: PMC6028370

Abstract Article PDF–634K

Select item 586592811.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

Adi Rachmiel, Shahar Turgeman, Omri Emodi, Dror Aizenbud, Dekel Shilo

Plast Reconstr Surg Glob Open. 2018 Feb; 6(2): e1678. Published online 2018 Feb 27. doi: 10.1097/GOX.0000000000001678

PMCID:: PMC5865928

Abstract Article PDF–740K

Select item 549672112.

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Rafael Fabiano Machado Rosa, Samir Abou Ghaouche de Moraes, Leonardo Paludo Sulczinski, Filipe Augusto da Silva, Olga Gaio Milner, Silvana Rodrigues Streit Pires, Osvaldo Alfonso Pinto Artigalas, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen

Rev Paul Pediatr. 2017 Apr-Jun; 35(2): 234–238. Published online 2017 May 15. doi: 10.1590/1984-0462/;2017;35;2;00017

PMCID:: PMC5496721

Abstract Article PDF–681K

Select item 548463313.

Novel Mutation in TP63 Associated with Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T cell Lymphopenia

Philip F. Giampietro, Mei W. Baker, Monica J. Basehore, Julie R. Jones, Christine M. Seroogy

Am J Med Genet A. Author manuscript; available in PMC 2017 Jun 26.

Published in final edited form as: Am J Med Genet A. 2013 Jun; 161A(6): 1432–1435. Published online 2013 Apr 23. doi: 10.1002/ajmg.a.35885

PMCID:: PMC5484633

Abstract Article PDF–227K

Select item 495445714.

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Vanessa Barbaro, Annamaria Assunta Nasti, Paolo Raffa, Angelo Migliorati, Patrizia Nespeca, Stefano Ferrari, Elisa Palumbo, Marina Bertolin, Claudia Breda, Francesco Miceli, Antonella Russo, Luciana Caenazzo, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio

Stem Cells Transl Med. 2016 Aug; 5(8): 1098–1105. Published online 2016 May 5. doi: 10.5966/sctm.2015-0358

PMCID:: PMC4954457

Abstract Article PDF–1.8M

Select item 490436515.

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report

Héctor M. Ramos-Zaldívar, Daniel G. Martínez-Irías, Nelson A. Espinoza-Moreno, José S. Napky-Rajo, Tulio A. Bueso-Aguilar, Karla G. Reyes-Perdomo, Jimena A. Montes-Gambarelli, Isis M. Euceda, Aldo F. Ponce-Barahona, Carlos A. Gámez-Fernández, Wilberg A. Moncada-Arita, Victoria A. Palomo-Bermúdez, Julia E. Jiménez-Faraj, Amanda G. Hernández-Padilla, Denys A. Olivera, Kevin J. Robertson, Luis A. Leiva-Sanchez, Edwin Francisco Herrera-Paz

J Med Case Rep. 2016; 10: 156. Published online 2016 Jun 13. doi: 10.1186/s13256-016-0921-8