Expanding the phenotype of ATP6AP1 deficiency

Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195
Authors:
Subit Barua
Sara Berger
Elaine M Pereira
Vaidehi Jobanputra
Affiliated Authors:
Subit Barua
Sara Berger
Elaine M Pereira
Vaidehi Jobanputra
Columbia Affiliation:
Subjects:
ATP Synthase Function and Regulation (OpenAlex Topic)
Pathogenesis and Management of Biliary Atresia (OpenAlex Topic)
Neonatal Lung Development and Respiratory Morbidity (OpenAlex Topic)
Congenital Disorders of Glycosylation (MeSH)
Hydrocephalus (MeSH)
Hypospadias (MeSH)
Liver Diseases (MeSH)
Pectus Carinatum (MeSH)
Vacuolar Proton-Translocating ATPases (MeSH)
Author Keywords:
congenital septal defect
fetal cystic hygroma
jaundice
elink
Publication Type:
Article
Unique ID:
10.1101/mcs.a006195
PMID:
35732497
DOI:
10.1101/mcs.a006195
Journal:
Cold Spring Harbor Molecular Case Studies
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: