Zobrazeno 1 - 10
of 161
pro vyhledávání: '"split hand foot malformation"'
Autor:
Yaqian Wang, Yang Li, Lidong Zeng, Wenbo Li, Xin Dong, Jia Guo, Xiangrui Meng, Jiacheng Lu, Jiawei Xu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is
Externí odkaz:
https://doaj.org/article/55571d010a07469abc15f890af0bed50
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit character
Externí odkaz:
https://doaj.org/article/9ad6a507a4344c4dba0f6b5b7b9e5d0f
Akademický článek
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Autor:
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/c0a757e69bd44ff28873ec2e013dc8c8
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-gen
Externí odkaz:
https://doaj.org/article/03a98101038846149947fe8489b5d983
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2613-2615 (2022)
Externí odkaz:
https://doaj.org/article/13a41dbfe19046098ade703e6e95b109
Autor:
Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplic
Externí odkaz:
https://doaj.org/article/60b743b3c30a4c4ab374106343dc21ce
Autor:
Siham Chafai Elalaoui, Nawfal Fejjal3, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi
Publikováno v:
The Pan African Medical Journal, Vol 39, Iss 21 (2021)
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same
Externí odkaz:
https://doaj.org/article/627971715e194e8eb539a7c87d852bb0
Autor:
Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background Split hand/foot malformation (SHFM) is a congenital limb developmental disorder, which impairs the fine activities of hand/foot in the affected individuals seriously. SHFM is commonly inherited as an autosomal dominant disease wit
Externí odkaz:
https://doaj.org/article/8aabc3f6108e4d58884ce46f6b87e148
Akademický článek
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