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 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

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: 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 Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Mohammad M. Al-Qattan ◽  
Zuhair A. Rahbeeni ◽  
Zuhair N. Al-Hassnan ◽  
Abdulaziz Jarman ◽  
Atif Rafique ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Syndrome Type ◽  
Partial Deletion ◽  
Gene Deletions ◽  
Mild Phenotype ◽  
Contiguous Gene ◽  
Chromosome 16P13.3 ◽  
Contiguous Gene Deletion Syndrome

The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1992 ◽  
Vol 1 (4) ◽  
pp. 243-247 ◽  
Author(s):  
Robert Morell ◽  
Thomas B. Friedman ◽  
Sukarti Moeljopawiro ◽  
Hartono ◽  
Soewito ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Human Homolog ◽  
Paired Domain
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