Zobrazeno 1 - 10
of 466
pro vyhledávání: '"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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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
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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2613-2615 (2022)
Externí odkaz:
https://doaj.org/article/13a41dbfe19046098ade703e6e95b109
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background The purpose of this study was to describe the clinical characteristics of macrodactyly of the foot through a large cohort of cases to further understand this rare entity. Methods Medical records, clinical photographs, plain radiog
Externí odkaz:
https://doaj.org/article/b3b1b346c3c3437290d6138a320d6a77
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
Publikováno v:
Chinese Journal of Plastic and Reconstructive Surgery, Vol 2, Iss 1, Pp 18-24 (2020)
ABSTRACT: Purpose: The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese patients with split hand–foot malformation (SHFM), a severe heterogeneous congenital anomaly characterized by hypodevelo
Externí odkaz:
https://doaj.org/article/ba31f1606e4549ea85df53e6a96fc554