scholarly journals Osteogenesis Imperfecta or Fanconi-Bickel Syndrome? (Report of a Very Rare Disease Due to New Mutation on GLUT2 Gene)

2016 ◽  
Vol 1 (2) ◽  
pp. 73-76 ◽  
Author(s):  
Y. Shafaghati ◽  
P. Sarkheil ◽  
T. Baghdadi ◽  
F. Hadipour ◽  
Z. Hadipour ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Rare Disease ◽  
New Mutation ◽  
Glut2 Gene ◽  
Syndrome Report

scholarly journals Birt-Hogg-Dubé Syndrome: Report of a New Mutation

2012 ◽  
Vol 19 (3) ◽  
pp. 193-195 ◽  
Author(s):  
Habib U Rehman
Keyword(s):  
Autosomal Dominant ◽  
Present Report ◽  
Germline Mutations ◽  
New Mutation ◽  
Truncated Protein ◽  
Pulmonary Cysts ◽  
Syndrome Report

Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease.

Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1

2016 ◽  
Vol 63 (7) ◽  
pp. 367-369
Author(s):  
Isabel Pavón de Paz ◽  
Belén Gil Fournier ◽  
Cristina Navea Aguilera ◽  
Sara Gómez Rodríguez ◽  
María Soraya Ramiro León
Keyword(s):  
Osteogenesis Imperfecta ◽  
New Mutation

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation inTP63

2005 ◽  
Vol 138A (2) ◽  
pp. 146-149 ◽  
Author(s):  
Anne M. Slavotinek ◽  
June Tanaka ◽  
Alison Winder ◽  
Karin Vargervik ◽  
Anita Haggstrom ◽  
...  
Keyword(s):  
New Mutation ◽  
Syndrome Report

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in theCOL1A1 gene

2006 ◽  
Vol 26 (4) ◽  
pp. 394-394 ◽  
Author(s):  
Marijke Aerts ◽  
Caroline VanHolsbeke ◽  
Thomy deRavel ◽  
Roland Devlieger
Keyword(s):  
Prenatal Diagnosis ◽  
Osteogenesis Imperfecta ◽  
Type Ii ◽  
New Mutation

scholarly journals Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

2018 ◽  
Vol 21 (2) ◽  
pp. 134 ◽  
Author(s):  
Helena Ferreira ◽  
Raquel Nuñez Ramos ◽  
Cinthia Flores Quan ◽  
Susana Redecillas Ferreiro ◽  
Vanessa Cabello Ruiz ◽  
...  
Keyword(s):  
Rare Disease ◽  
New Mutation ◽  
Chylomicron Retention Disease

Abstract #255: Kenny-Caffey Syndrome: A Rare Presentation of a Rare Disease

2006 ◽  
Vol 12 ◽  
pp. 93-94
Author(s):  
Khurshid Ahmad Khan ◽  
Stephen A. Brietzke
Keyword(s):  
Rare Disease ◽  
Rare Presentation
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