Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature

BACKGROUND/OBJECTIVE: Variants in PAPSS2 (3′-phosphoadenosine 5′-phosphosulfate synthetase 2) present with varying degrees of brachyolmia (short trunk, platyspondyly, mild long-bone abnormalities). Our objective is to present the phenotype of male and female siblings with the same novel inactivating...

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Detalles Bibliográficos
Autores principales: Perez-Garcia, E. Melissa, Whalen, Philip, Gurtunca, Nursen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984529/
https://www.ncbi.nlm.nih.gov/pubmed/35415222
http://dx.doi.org/10.1016/j.aace.2021.11.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984529/
https://www.ncbi.nlm.nih.gov/pubmed/35415222
http://dx.doi.org/10.1016/j.aace.2021.11.003

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