Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Bożena Anna Marszałek-Kruk"'
Autor:
Małgorzata Kulesa-Mrowiecka, Anna Lipowicz, Bożena Anna Marszałek-Kruk, Damian Kania, Wojciech Wolański, Andrzej Myśliwiec, Krzysztof Dowgierd
Publikováno v:
Children, Vol 11, Iss 4, p 399 (2024)
Introduction: Cleft lip with or without cleft palate (CL/P) stands as the most common congenital facial anomaly, stemming from multifactorial causes. Objective: Our study aimed to ascertain the prevalence and characteristics of cleft palates, identif
Externí odkaz:
https://doaj.org/article/7bc66bdae10744a09928e99aeb6b27c7
Autor:
Bożena Anna Marszałek-Kruk, Andrzej Myśliwiec, Anna Lipowicz, Wojciech Wolański, Małgorzata Kulesa-Mrowiecka, Krzysztof Dowgierd
Publikováno v:
Genes, Vol 15, Iss 1, p 29 (2023)
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrog
Externí odkaz:
https://doaj.org/article/bbef69c125654788855a2fd1be65c730
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T
Externí odkaz:
https://doaj.org/article/cd7cc5d218344ea2987d0e62f63989c1
Publikováno v:
Genes, Vol 12, Iss 9, p 1392 (2021)
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with
Externí odkaz:
https://doaj.org/article/50fe901f25914c479d6eb4980afc2388
Publikováno v:
Genes, Vol 12, Iss 1392, p 1392 (2021)
Genes
Genes
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with
Publikováno v:
Journal of Applied Genetics
Erratum to: J Appl Genetics DOI 10.1007/s13353-012-0091-3 Unfortunately, the original version of this article inadvertently contained errors: Is c.484_668ins185bp; Should be: c.483_484ins185 (the revised sentence appears 5 times: in abstract & main t
Publikováno v:
Pediatria Polska. (6):462-465
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The syndrome is characterized by a similar phenotype: micrognathia, microtia, midface hypoplasia, cleft lip and palate. The estimated incidence rate is 1/5