Review of clinical and molecular variability in autosomal recessive cutis laxa 2A-Reference-Cited by-同舟云学术

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Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Published:2020-12-27 Issue:3 Volume:185 Page:955-965
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Morlino Silvia¹,Nardella Grazia¹,Castellana Stefano²,Micale Lucia¹,Copetti Massimiliano³,Fusco Carmela¹,Castori Marco¹^ORCID

Affiliation:

1. Division of Medical Genetics Fondazione IRCCS‐Casa Sollievo della Sofferenza Foggia Italy

2. Unit of Bioinformatics Fondazione IRCCS‐Casa Sollievo della Sofferenza Foggia Italy

3. Unit of Biostatistics Fondazione IRCCS‐Casa Sollievo della Sofferenza Foggia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62047

Reference34 articles.

1. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

2. RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

3. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta1-pyrroline-5-carboxylate synthase

4. ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

5. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

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1. Skin and Lacrimal Drainage System;Ocular Pathology;2025

2. Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII;Epileptic Disorders;2024-07-02

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

4. Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review;Human Mutation;2024-01

5. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

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