Mutational analysis of theTCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis-Reference-Cited by-同舟云学术

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Mutational analysis of theTCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis

Published:2005 Issue:4 Volume:134A Page:363-367
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Horiuchi Katsumi,Ariga Tadashi,Fujioka Hirotaka,Kawashima Kunihiro,Yamamoto Yuhei,Igawa Hiroharu,Sugihara Tsuneki,Sakiyama Yukio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30357/fullpdf

Reference16 articles.

1. A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease

2. The structure and evolution of the human β-globin gene family

3. Mutation testing in Treacher Collins Syndrome

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1. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity;Clinical Genetics;2022-10-17

2. Principles of Orthodontic Management of Treacher Collins Syndrome;Craniofacial Microsomia and Treacher Collins Syndrome;2022

3. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India;The Cleft Palate-Craniofacial Journal;2021-10-29

4. Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome;Journal of Craniofacial Surgery;2021-07-06

5. Treacher Collins Sendromu’nda Dentofasiyal Bulgular ve Tedavi Yaklaşımı;Sakarya Medical Journal;2019-06-28

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