Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis l...

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Bibliographic Details
Main Authors: Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Format: Article
Language:English
Published: MDPI AG 2017-03-01
Series:International Journal of Molecular Sciences
Subjects:
autosomal recessive cutis laxa 2A
autosomal recessive cutis laxa 2B
geroderma osteodysplastica
Pyrroline-5-carboxylate reductase 1 (PYCR1)
ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2)
GOLGIN, RAB6-INTERACTING (GORAB)
Online Access:http://www.mdpi.com/1422-0067/18/3/635

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