trichorhinophalangeal syndrome type 1
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scholarly journals Trichorhinophalangeal Syndrome Type 1: Unusual Case Report and Review of Literature

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Andrade Rodrigo Soares de ◽  
Gonçalves Juliana de Lima ◽  
Fonseca Cláudia de Alvarenga Diniz ◽  
Taburini Adriana Boeri Freire ◽  
Gomes Heloisa de Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Syndrome Type ◽  
Review Of Literature ◽  
Trichorhinophalangeal Syndrome ◽  
Unusual Case Report ◽  
Trichorhinophalangeal Syndrome Type 1

scholarly journals TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

2020 ◽  
Vol 47 (7) ◽  
pp. 774-778
Author(s):  
Piranit Kantaputra ◽  
Dhirawat Jotikasthira ◽  
Bruce Carlson ◽  
Teerapat Wongmaneerung ◽  
Natalina Quarto ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Supernumerary Teeth ◽  
Hair Morphology ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

scholarly journals A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

2018 ◽  
Vol 15 (2) ◽  
pp. 97-101
Author(s):  
Jin-Mo Park ◽  
Yun Jeong Lee ◽  
Jin-Sung Park
Keyword(s):  
Frameshift Mutation ◽  
Syndrome Type ◽  
Mild Phenotype ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

scholarly journals An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Giulia Trippella ◽  
Paolo Lionetti ◽  
Sara Naldini ◽  
Francesca Peluso ◽  
Matteo Della Monica ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Syndrome Type ◽  
Review Of Literature ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

scholarly journals Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1

2015 ◽  
Vol 2015 (jan27 2) ◽  
pp. bcr2014207645-bcr2014207645
Author(s):  
R. Narayanan ◽  
S. Chennareddy
Keyword(s):  
Interesting Case ◽  
Syndrome Type ◽  
Trichorhinophalangeal Syndrome ◽  
Sparse Hair ◽  
Trichorhinophalangeal Syndrome Type 1

Trichorhinophalangeal Syndrome, Type I (Mim 190350)

2012 ◽  
pp. 339-341
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Radiographic Features ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

Chapter 73 covers trichorhinophalangeal syndrome, Type 1 (MIM 190350), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Trichorhinophalangeal syndrome type 1: A case report with literature review

2012 ◽  
Vol 3 (2) ◽  
pp. 209 ◽  
Author(s):  
Ramesh Candamourty ◽  
Suresh Venkatachalam ◽  
B Karthikeyan ◽  
MR Ramesh Babu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Syndrome Type ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1
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