A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

2009 ◽  
Vol 52 (5) ◽  
pp. 341-343 ◽  
Author(s):  
Samantha Stora ◽  
Martine Conte ◽  
Eliane Chouery ◽  
Sami Richa ◽  
Nadine Jalkh ◽  
...  
Keyword(s):  
Natural History ◽  
Female Patient ◽  
Novel Mutation ◽  
Syndrome Report

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation

2016 ◽  
Vol 55 (8) ◽  
pp. 898-902 ◽  
Author(s):  
Burak Tekin ◽  
Deniz Yucelten ◽  
Filippo Beleggia ◽  
Ofer Sarig ◽  
Eli Sprecher
Keyword(s):  
Novel Mutation ◽  
Syndrome Report

scholarly journals A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

2013 ◽  
Vol 64 (5) ◽  
pp. 398-402 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Edyta Borkowska ◽  
Hanna Moczulska ◽  
Jolanta Słowikowska-Hilczer ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Female Patient ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Xy Female

scholarly journals Dilated Cardiomyopathy Compatible With Sarcoidosis Presenting with Syncope Due to Torsades de Pointes: a Case Report

2021 ◽  
Vol 34 (1) ◽  
pp. 32-37
Author(s):  
Carollina Fernandes Tinoco ◽  
Nathalia Rodrigues Perrenoud Branca ◽  
Gabriela Domingues Carvalho ◽  
Lívia Silva de Paula Faria ◽  
Erivelton Alessandro do Nascimento
Keyword(s):  
Case Report ◽  
Natural History ◽  
Dilated Cardiomyopathy ◽  
Female Patient ◽  
Diagnostic Tests ◽  
Clinical Presentation ◽  
Cardiac Sarcoidosis ◽  
Torsades De Pointes ◽  
Unknown Etiology ◽  
Granulomatous Disease

Sarcoidosis is a multisystemic noncaseating granulomatous disease of unknown etiology. Cardiac sarcoidosis clinical presentation is diverse, and syncope is one of the possible primary events. Due to its variable natural history and initial presentation associated with lacking sensitive and specific diagnostic tests, it still represents a challenging diagnosis. This article presents the case of a 51-year-old female patient with intermittent syncope events associated with torsades de pointes and dilated cardiomyopathy compatible with sarcoidosis.

Retracing the natural history of Dravet syndrome: Report and review of literature

2018 ◽  
Vol 66 (3) ◽  
pp. 844
Author(s):  
Sachin Sureshbabu ◽  
Ivy Sebastian ◽  
Sudhir Peter ◽  
Chindripu Sobhana ◽  
GauravK Mittal
Keyword(s):  
Natural History ◽  
Dravet Syndrome ◽  
Review Of Literature ◽  
History Of ◽  
Syndrome Report

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene

2015 ◽  
Vol 58 (8) ◽  
pp. 392-399 ◽  
Author(s):  
Parag M. Tamhankar ◽  
Lakshmi Vasudevan ◽  
Vandana Bansal ◽  
Shyla R. Menon ◽  
Harshavardhan M. Gawde ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Report

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia

2016 ◽  
Vol 32 (2) ◽  
pp. 177-183 ◽  
Author(s):  
Harvy Mauricio Velasco ◽  
Yasmin Sanchez ◽  
Angela Milena Martin ◽  
Luis A. Umaña
Keyword(s):  
Natural History ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Sanfilippo Syndrome ◽  
Large Pedigree ◽  
Modifying Factors ◽  
History Of ◽  
Type C ◽  
End Stage ◽  
High Degree

Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT. The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group. The authors consider that the high degree of endogamy in this specific population could underlie modifying factors for the severity of presentation in these patients. Future studies might provide more information on the functional effect of this novel mutation, which could define this group as a genetic isolate.

Richner–Hanhart syndrome: Report of a case with a novel mutation of tyrosine aminotransferase

2006 ◽  
Vol 41 (1) ◽  
pp. 82-84 ◽  
Author(s):  
M. Minami-Hori ◽  
A. Ishida-Yamamoto ◽  
N. Katoh ◽  
H. Takahashi ◽  
H. Iizuka
Keyword(s):  
Novel Mutation ◽  
Tyrosine Aminotransferase ◽  
Hanhart Syndrome ◽  
Syndrome Report
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