Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurof...

Saved in:

書目詳細資料
Main Authors:	Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, Chanin Limwongse
格式:	雜誌
出版:	2018
主題:	Biochemistry, Genetics and Molecular Biology Medicine
在線閱讀:	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84862704574&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/51380
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

相似書籍

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
由: Piranit Nik Kantaputra, et al.
出版: (2018)

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
由: Kantaputra P.N., et al.
出版: (2014)

Clinics in diagnostic imaging (96). Plexiform neurofibromatosis
由: Visrutaratna P., et al.
出版: (2014)

Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1
由: Courtney, Eliza, et al.
出版: (2022)

Floppy infant caused by MTM1 mutation: A first genetically-confirmed X-linked myotubular myopathy patient in Thailand
由: Teerin Liewluck, et al.
出版: (2018)

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
由: Onnida Wattanarat, et al.
出版: (2018)

Traumatic upper limb weakness in a man with type 1 neurofibromatosis
由: Ng, E.S.-T., et al.
出版: (2016)

Portrait of the "Underdeveloped Country"
由: Roxas, Sixto K.
出版: (1955)

BCOR mutations and unstoppable root growth: A commentary on oculofaciocardiodental syndrome: Novel BCOR mutations and expression in dental cells
由: Piranit Nik Kantaputra
出版: (2018)

BCOR mutations and unstoppable root growth: A commentary on oculofaciocardiodental syndrome: Novel BCOR mutations and expression in dental cells
由: Piranit Nik Kantaputra
出版: (2018)

Bone Mineral Density in Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis
由: Charoenngam N.
出版: (2023)

Relationship between retinal vascular geometry with retinal nerve fiber layer and ganglion cell-inner plexiform layer in nonglaucomatous eyes
由: Tham, Y.-C., et al.
出版: (2014)

Giant phaeochromocytoma presenting with an acute stroke: reappraising phaeochromocytoma surveillance for the neurofibromatosis type 1 phakomatosis
由: Lee Y., et al.
出版: (2020)

Relationship between ganglion cell-inner plexiform layer and optic disc/retinal nerve fibre layer parameters in non-glaucomatous eyes
由: Tham, Y.-C., et al.
出版: (2014)

Pheochromocytoma and gastrointestinal stromal tumours in an adult neurofibromatosis type 1 patient: A rare co-occurrence
由: Nuttawut Vongsumran, et al.
出版: (2020)

Economics of underdevelopment: dependence theory and the Philippine experience
由: Flores, Noel C.
出版: (1983)

Making extra teeth: Lessons from a TRPS1 mutation
由: Worawan Kunotai, et al.
出版: (2018)

Making extra teeth: Lessons from a TRPS1 mutation
由: Worawan Kunotai, et al.
出版: (2018)

Malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A 2-case report and review of the literature
由: Apichat Asavamongkolkul, et al.
出版: (2018)

Cervical neurofibromatosis with quadriparesis: Management by fibular strut graft
由: Wichien Laohacharoensombat, et al.
出版: (2018)

Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation
由: Piranit Nik Kantaputra, et al.
出版: (2020)

A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation
由: Jantima Tanboon, et al.
出版: (2018)

A benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma
由: Luis Requena, et al.
出版: (2018)

A Critical Analysis of Globalilzation in the Context of Africa Underdevelopment
由: Perpustakaan UGM, i-lib
出版: (2008)

Maternal and Child Health in Underdeveloped Areas and State Borders
由: Yendris Krisno Syamruth, -, et al.
出版: (2021)

Bureaucracy and underdevelopment in developing societies a critical review
由: Shamsul, Haque M.
出版: (2011)

Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation
由: Piranit Nik Kantaputra, et al.
出版: (2018)

Response to the Letter to the Editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster
由: Piranit Nik Kantaputra
出版: (2018)

Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis
由: Piranit Nik Kantaputra
出版: (2018)

Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis
由: Piranit Nik Kantaputra
出版: (2018)

Response to the Letter to the Editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster
由: Piranit Nik Kantaputra
出版: (2018)

Political economic underdevelopment: The failure of small-scale industries in the Philippines
由: Espino, Pacifico E., et al.
出版: (1987)

Money as a medium of exchange and monetary growth in an underdevelopment context
由: Kapur, B.K.
出版: (2016)

Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
由: Pranoot Tanpaiboon, et al.
出版: (2018)

Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
由: Pranoot Tanpaiboon, et al.
出版: (2018)

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and aCOL1A2mutation
由: Piranit Nik Kantaputra, et al.
出版: (2018)

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
由: Piranit Nik Kantaputra, et al.
出版: (2018)

A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: First case report from Thailand
由: Voravich Luangwedchakarn, et al.
出版: (2018)

Walang hanggang paalam : the case of international labor migration and underdevelopment in the Philippines.
由: Lorilyn Banez Felimer-Shaikh.
出版: (2010)

Internet-mediated experiences of underdevelopment: A four-country survey of academia
由: Thompson, E.C.
出版: (2016)