Cargando…

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v‐ATPase components or the mitochondrial proline cycle. Besides cutis laxa, muscular hypotonia and ca...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638669/ https://www.ncbi.nlm.nih.gov/pubmed/33320377 http://dx.doi.org/10.1002/jimd.12341

Ejemplares similares

Metabolic cutis laxa syndromes
por: Mohamed, Miski, et al.
Publicado: (2011)

Cutis Laxa
Publicado: (1890)

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
por: Kariminejad, Ariana, et al.
Publicado: (2017)

Congenital cutis laxa
por: Mauskar, Anupama, et al.
Publicado: (2010)

Acquired Cutis Laxa
por: Jain, Ankur
Publicado: (2020)

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity
por: Goyal, Manisha, et al.
Publicado: (2015)

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
por: Piard, Juliette, et al.
Publicado: (2018)

Biomechanical Properties of the Skin in Cutis Laxa
por: Kozel, Beth A., et al.
Publicado: (2014)

Cutis laxa with pulmonary artery stenosis
por: Patel, Krina B., et al.
Publicado: (2012)

Cutis laxa presenting as recurrent ileus
por: Bharadwaj, Shishira, et al.
Publicado: (2016)

Cutis Laxa syndrome: a case report
por: Hbibi, Mohamed, et al.
Publicado: (2015)

Spontaneous coronary artery dissection in cutis laxa
por: Charters, Pia Frances Pemberton, et al.
Publicado: (2022)

Cutis Laxa: A Report of Two Interesting Cases
por: Mitra, Subhabrata, et al.
Publicado: (2013)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Acquired Localized Cutis Laxa due to Increased Elastin Turnover
por: Nygaard, Rie Harboe, et al.
Publicado: (2016)

Cutis laxa congénital: à propos d’un cas
por: El Ouali, Aziza, et al.
Publicado: (2019)

Congenital Cutis Laxa: A Case Report and Literature Review
por: Kun, Yang, et al.
Publicado: (2022)

Cutis laxa autosomal recessive type II or wrinkly skin syndrome?
por: Arora, Pooja, et al.
Publicado: (2016)

Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease
por: Majithia, Reena A., et al.
Publicado: (2018)

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
por: Neves, João Farela, et al.
Publicado: (2018)

Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
por: Mauger, Thomas F., et al.
Publicado: (2019)

Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance
por: Shalhout, Sophia Z., et al.
Publicado: (2020)

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
por: Vogt, Guido, et al.
Publicado: (2022)

Postoperative Intussusception in a Neonate with Congenital Cutis Laxa and Huge Hiatal Hernia
por: Leily, Mohajerzadeh, et al.
Publicado: (2014)

Radiologic Findings in Cutis Laxa Syndrome and Unusual Association with Hypertrophic Pyloric Stenosis
por: Alehossein, Mehdi, et al.
Publicado: (2013)

Case of acquired cutis laxa with preceding urticarial eruption treated by diphenyl sulfone
por: Takenaka, Yuko, et al.
Publicado: (2018)

Acquired Localized Cutis Laxa: A Case Report and the Role of Plastic Surgery
por: Reddy, Guru Prasad, et al.
Publicado: (2019)

Successful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy
por: Krishnan Nair, Jayakumar Thanathu, et al.
Publicado: (2022)

Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels
por: Ma, Yan, et al.
Publicado: (2014)

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child
por: Kumar, Rakesh, et al.
Publicado: (2017)

Type II acquired cutis laxa associated with recurrent urticarial vasculitis: brief report
por: Nabatanzi, Amelia, et al.
Publicado: (2020)

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
por: Gharesouran, Jalal, et al.
Publicado: (2021)

Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review
por: Katsuren, Kyoko, et al.
Publicado: (2022)

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
por: Bahena-Bahena, D., et al.
Publicado: (2014)

Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report
por: Gverić, Tugomir, et al.
Publicado: (2010)

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma
por: Lavorato, Fernanda Guedes, et al.
Publicado: (2013)

A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited
por: Dutta, Abhijit, et al.
Publicado: (2016)

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature
por: Hajjar, Waseem M., et al.
Publicado: (2018)

Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement
por: Pees, Christiane, et al.
Publicado: (2022)

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
por: Karacan, İlker, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_bahejugdbo4f593otifh88o8ps