Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades-Reference-Cited by-同舟云学术

Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Published:2020-04-16 Issue:7 Volume:182 Page:1767-1775
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lacassie Yves¹^ORCID,Johnson Britt²,Lay‐Son Guillermo³^ORCID,Quintana Rita²,King Andrew⁴,Cortes Fanny⁵,Alvarez Cecilia⁶,Gomez Ricardo⁷,Vargas Alfonso⁷,Chalew Stuart⁷,King Alejandra⁶,Guardia Sylvia⁶,Sorensen Ricardo U.⁸,Aradhya Swaroop²

Affiliation:

1. Department of Pediatrics, Division of Genetics LSU Health Sciences Center and Children's Hospital New Orleans Louisiana USA

2. INVITAE San Francisco California USA

3. Servicio de Genética, Clínica Alemana y División de Pediatría Escuela de Medicina Pontificia Universidad Católica de Chile Santiago Chile

4. Department of Orthopedics LSU Health Sciences Center and Children's Hospital New Orleans Louisiana USA

5. Unidad de Genética, INTA, Universidad de Chile Santiago Chile

6. Departamento de Pediatría Clínica Alemana and Facultad de Medicina Clínica Alemana‐Universidad del Desarrollo Santiago Chile

7. Department of Pediatrics, Division of Endocrinology LSU Health Sciences Center and Children's Hospital New Orleans Louisiana USA

8. Department of Pediatrics, Division of Immunology LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana and Honorary Professor Universidad de la Frontera Temuco Chile

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61597

Reference29 articles.

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2. Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport

3. Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

4. NBAS mutations cause acute liver failure: when acetaminophen is not a culprit

5. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

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1. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease;Molecular Genetics and Metabolism;2024-03

2. Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency;Journal of Inherited Metabolic Disease;2024-01-27

3. Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype;Clinical Genetics;2023-03-21

4. Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection;International Journal of Molecular Sciences;2023-01-30

5. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12