A CASE OF TREACHER COLLINS SYNDROME

被引：6

作者：

Ulusal, S. ^{[1
]}

Gurkan, H. ^{[1
]}

Vatansever, U. ^{[2
]}

Kurkcu, K. ^{[3
]}

Tozkir, H. ^{[1
]}

Acunas, B. A. ^{[2
]}

机构：

[1] Trakya Univ, Fac Med, Dept Med Genet, Edirne, Turkey

[2] Trakya Univ, Fac Med, Dept Pediat, Edirne, Turkey

[3] Burc Genet Diag Ctr, Istanbul, Turkey

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2013年 / 16卷 / 02期

关键词：

TCOF1; gene; Treacher Collins syndrome (TCS); Mandibulofacial dysostosis; De novo mutation; DYSOSTOSIS; GENE;

D O I：

10.2478/bjmg-2013-0036

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation.

引用

页码：77 / 80

页数：4

共 50 条

[1] Treacher Collins syndrome: A case study
Chung, Jenny Y.
Cangialosi, Thomas J.
Eisig, Sidney B.
[J]. AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS, 2014, 146 (05) : 665 - 672
[2] ATYPICAL CASE OF TREACHER COLLINS SYNDROME
LLIADES, CE
[J]. EAR NOSE & THROAT JOURNAL, 1978, 57 (11): : 486 - 489
[3] Treacher Collins syndrome - a case report
Fraszczyk-Tousty, Magda
Jankowska, Agata
Tousty, Joanna
Tousty, Piotr
Loniewska, Beata
[J]. CASE REPORTS IN PERINATAL MEDICINE, 2023, 12 (01)
[4] Treacher Collins syndrome: a case report
Ibrahim, R.
Albasha, D. Hejazi
Daood, H.
[J]. NETHERLANDS JOURNAL OF CRITICAL CARE, 2021, 29 (01): : 36 - 40
[5] Treacher Collins syndrome: a case report
Madi, Medhini
Babu, Subhas G.
Bhat, Supriya
Madiyal, Ananya
[J]. CUKUROVA MEDICAL JOURNAL, 2018, 43 (03): : 718 - 721
[6] TREACHER-COLLINS SYNDROME - REPORT OF CASE
KLIMEN, GR
[J]. JOURNAL OF DENTISTRY FOR CHILDREN, 1979, 46 (02): : 134 - 137
[7] TREACHER COLLINS SYNDROME: A RARE CASE REPORT
Sarkar, Phani Kumar
Sarkar, Pradip
Acharjee, Umakanta
Chakma, Montu
Noatia, Chiranjit
[J]. JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2014, 3 (09): : 2131 - 2134
[8] Treacher Collins Syndrome: A Review and Case Presentation
Carlos Leyva, Juan
Mallarino Restrepo, Gonzalo
[J]. UNIVERSITAS MEDICA, 2014, 55 (01): : 64 - 70
[9] Treacher Collins Syndrome
Colvin, Natasha N.
Shirer, Alyson E.
Hayes, Harskin, Jr.
Wills, Arnethia I.
[J]. US PHARMACIST, 2018, 43 (05) : HS2 - HS7
[10] Treacher Collins syndrome
Dixon, J.
Trainor, P.
Dixon, M. J.
[J]. ORTHODONTICS & CRANIOFACIAL RESEARCH, 2007, 10 (02) : 88 - 95

← 1 2 3 4 5 →