Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1313
Abstract: Abstract Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with… read more here.
Keywords: collins syndrome; genetics; deletion; deletion tcof1 ... See more keywords
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Genomics"
DOI: 10.1007/s00438-017-1384-3
Abstract: Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In… read more here.
Keywords: collins syndrome; tcs; autosomal dominant; treacher collins ... See more keywords
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.03.136
Abstract: Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids,… read more here.
Keywords: tcs3 associated; collins syndrome; chondrogenic differentiation; differentiation ... See more keywords
[Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome].
Sign Up to like & getrecommendations! Published in 2018 at "Revista brasileira de anestesiologia"
DOI: 10.1016/j.bjan.2015.09.008
Abstract: Neonates and small infants with craniofacial malformation may be very difficult or impossible to mask ventilate or intubate. We would like to report the fiberoptic intubation of a small infant with Treacher Collins Syndrome using… read more here.
Keywords: collins syndrome; intubation; laryngeal mask; treacher collins ... See more keywords
Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of oral and maxillofacial surgery"
DOI: 10.1016/j.ijom.2021.03.001
Abstract: Treacher Collins syndrome (TCS) is a congenital malformation of the craniofacial structures derived from the first and second pharyngeal arches. The craniofacial deformities are well described in the literature. However, little is known about whether… read more here.
Keywords: extracraniofacial anomalies; 248 patients; collins syndrome; study ... See more keywords
Assessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of stomatology, oral and maxillofacial surgery"
DOI: 10.1016/j.jormas.2020.10.011
Abstract: Treacher Collins Syndrome (TCS) is a genetic disorder with predominantly autosomal dominant inheritance, associated with different mutations in specific genes. This review aimed to evaluate the facial, temporomandibular, zygomatic and bucco-dental phenotype in TCS individuals,… read more here.
Keywords: craniofacial dental; assessment craniofacial; characteristics individuals; collins syndrome ... See more keywords
Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Craniofacial Surgery"
DOI: 10.1097/scs.0000000000007769
Abstract: Supplemental Digital Content is available in the text Abstract The purpose of this study was to investigate the phenotypes and treatment modalities (Tx-Mod) in patients with Treacher-Collins syndrome (TCS) using a TCS severity index (TSI).… read more here.
Keywords: phenotypes treatment; treatment modalities; treacher collins; treatment ... See more keywords
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14243
Abstract: Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative… read more here.
Keywords: systematic review; treacher collins; severity; collins syndrome ... See more keywords
Endotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Anesthesia progress"
DOI: 10.2344/anpr-66-02-01
Abstract: We report a case of difficult endotracheal intubation in a patient with Treacher Collins syndrome. A sixteen-year-old female patient scheduled for general anesthesia had a displaced palatal tooth that interfered with laryngoscope insertion into the… read more here.
Keywords: patient treacher; endotracheal intubation; collins syndrome; intubation ... See more keywords