scholarly journals Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

2009 ◽  
Vol 85 (1) ◽  
pp. 120-129 ◽  
Author(s):  
Duane L. Guernsey ◽  
Haiyan Jiang ◽  
Susan C. Evans ◽  
Meghan Ferguson ◽  
Makoto Matsuoka ◽  
...  
Keyword(s):  
Cutis Laxa ◽  
Carboxylate Reductase

scholarly journals Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha ( PI4K2A ) at the membrane‐enzyme interface is associated with metabolic cutis laxa

2020 ◽  
Vol 43 (6) ◽  
pp. 1382-1391
Author(s):  
Miski Mohamed ◽  
Thatjana Gardeitchik ◽  
Shanti Balasubramaniam ◽  
Sergio Guerrero‐Castillo ◽  
Daisy Dalloyaux ◽  
...  
Keyword(s):  
Cutis Laxa ◽  
Membrane Enzyme ◽  
Phosphatidylinositol 4

Autosomal Recessive Cutis Laxa Type 2

2009 ◽  
pp. 196-197
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene

2013 ◽  
Vol 30 (6) ◽  
pp. e265-e267 ◽  
Author(s):  
Nayereh Nouri ◽  
Omid Aryani ◽  
Narges Nouri ◽  
Behnam Kamalidehghan ◽  
Massoud Houshmand
Keyword(s):  
Cutis Laxa ◽  
Type Ii ◽  
Carboxylate Reductase

scholarly journals Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

2013 ◽  
Vol 56 (6) ◽  
pp. 336-339 ◽  
Author(s):  
D.Z. Scherrer ◽  
M.B. Baptista ◽  
A.H.B. Matos ◽  
C.V. Maurer-Morelli ◽  
C.E. Steiner
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa
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