scholarly journals Autosomal recessive nail dysplasia

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Recessive ◽  
Nail Dysplasia

scholarly journals A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Ceren Saygı ◽  
Yasemin Alanay ◽  
Uğur Sezerman ◽  
Aslı Yenenler ◽  
Nesrin Özören
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Turkish Family ◽  
Nail Dysplasia

A novel missense mutation in the geneFZD6underlies autosomal recessive nail dysplasia

2012 ◽  
Vol 168 (2) ◽  
pp. 422-425 ◽  
Author(s):  
S.I. Raza ◽  
N. Muhammad ◽  
S. Khan ◽  
W. Ahmad
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Nail Dysplasia

FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal‐recessive nail dysplasia

2012 ◽  
Vol 166 (5) ◽  
pp. 1088-1094 ◽  
Author(s):  
G. Naz ◽  
S.M. Pasternack ◽  
C. Perrin ◽  
M. Mattheisen ◽  
M. Refke ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Nail Dysplasia

First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port

2020 ◽  
Author(s):  
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH ◽  
Ali NAJIZADEH ◽  
Saied HOSSEINI-ASL ◽  
Hooshang ZAIMKOHAN ◽  
Roshanak JAZAYERI
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Pathogenic Variant ◽  
Nail Dystrophy ◽  
First Report ◽  
Iranian Family ◽  
Northwestern Iran ◽  
Nail Dysplasia ◽  
First Time

Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.

scholarly journals Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

2011 ◽  
Vol 88 (6) ◽  
pp. 852-860 ◽  
Author(s):  
Anne-Sophie Fröjmark ◽  
Jens Schuster ◽  
Maria Sobol ◽  
Miriam Entesarian ◽  
Michaela B.C. Kilander ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Nail Dysplasia

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families

2019 ◽  
pp. 1
Author(s):  
Saadullah Khan ◽  
Anwar Khan ◽  
Malaika Hamid ◽  
Muhammad Nazif ◽  
Muhammad Abbas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Nail Dysplasia

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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