Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica-Reference-Cited by-同舟云学术

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

Published:2017-03-15 Issue:3 Volume:18 Page:635
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Kariminejad Ariana,Afroozan Fariba,Bozorgmehr Bita,Ghanadan Alireza,Akbaroghli Susan,Khorram Khorshid Hamid,Mojahedi Faezeh,Setoodeh Aria,Loh Abigail,Tan Yu,Escande-Beillard Nathalie,Malfait Fransiska,Reversade Bruno,Gardeitchik Thatjana,Morava Eva

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

http://www.mdpi.com/1422-0067/18/3/635/pdf

Reference35 articles.

1. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

2. Mutations in PYCR1 cause cutis laxa with progeroid features

3. Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

4. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

5. COBBLESTONE-LIKE BRAIN DYSGENESIS AND ALTERED GLYCOSYLATION IN CONGENITAL CUTIS LAXA, DEBRE TYPE

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1. Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa;Molecular Biology Reports;2024-04-10

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3. Orthognathic Surgery with Interdisciplinary Digital Planning in Patients with Geroderma Osteodysplasticum: A Case Report;Journal of Personalized Medicine;2023-11-04

4. Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with Cutis Laxa;2022-11-17

5. Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature;European Journal of Medical Genetics;2022-09